5-130897660-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130897660
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130897660
    reference: chr 5
allele count: 43
allele frequency: 3.550374027775485e-4
allele num: 121114
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.501+11T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.351+11T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.351+11T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.351+11T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.351+11T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.351+11T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.351+11T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.351+11T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.55-13777T>C
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19079
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28445
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11194
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

5-130897689-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130897689
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130897689
    reference: chr 5
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.333G>A
  hgvsp: ENST00000296859.6:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.333G>A
  hgvsp: ENST00000509018.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.333G>A
  hgvsp: ENST00000308008.6:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.333G>A
  hgvsp: ENST00000510071.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.483G>A
  hgvsp: ENST00000514667.1:c.483G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.333G>A
  hgvsp: ENST00000507093.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.55-13806G>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.333G>A
  hgvsp: ENST00000307984.5:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.333G>A
  hgvsp: ENST00000515170.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu111Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

5-130897698-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130897698
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130897698
    reference: chr 5
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.324T>C
  hgvsp: ENST00000296859.6:c.324T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.474T>C
  hgvsp: ENST00000514667.1:c.474T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.324T>C
  hgvsp: ENST00000507093.1:c.324T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.324T>C
  hgvsp: ENST00000510071.1:c.324T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.324T>C
  hgvsp: ENST00000307984.5:c.324T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.324T>C
  hgvsp: ENST00000509018.1:c.324T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.55-13815T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.324T>C
  hgvsp: ENST00000308008.6:c.324T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.324T>C
  hgvsp: ENST00000515170.1:c.324T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu108Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-130897708-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130897708
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130897708
    reference: chr 5
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.314G>A
  hgvsp: ENSP00000426081.1:p.Cys105Tyr
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.314G>A
  hgvsp: ENSP00000421684.1:p.Cys105Tyr
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.314G>A
  hgvsp: ENSP00000309298.5:p.Cys105Tyr
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.55-13825G>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.314G>A
  hgvsp: ENSP00000311419.6:p.Cys105Tyr
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.314G>A
  hgvsp: ENSP00000425389.1:p.Cys105Tyr
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.464G>A
  hgvsp: ENSP00000426948.1:p.Cys155Tyr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.314G>A
  hgvsp: ENSP00000425772.1:p.Cys105Tyr
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.314G>A
  hgvsp: ENSP00000296859.6:p.Cys105Tyr
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys105Tyr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

5-130897733-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130897733
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130897733
    reference: chr 5
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.289A>G
  hgvsp: ENSP00000311419.6:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.289A>G
  hgvsp: ENSP00000425389.1:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.55-13850A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.289A>G
  hgvsp: ENSP00000421684.1:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.289A>G
  hgvsp: ENSP00000426081.1:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.289A>G
  hgvsp: ENSP00000425772.1:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.289A>G
  hgvsp: ENSP00000296859.6:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.289A>G
  hgvsp: ENSP00000309298.5:p.Lys97Glu
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.439A>G
  hgvsp: ENSP00000426948.1:p.Lys147Glu
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys97Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-130897741-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130897741
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130897741
    reference: chr 5
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.282-1G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.282-1G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.282-1G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.55-13858G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.282-1G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.282-1G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.432-1G>C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.282-1G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.282-1G>C
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
hgvs: c.282-1G>C
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-130897742-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130897742
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130897742
    reference: chr 5
allele count: 11
allele frequency: 9.10852392229601e-5
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.55-13859A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.282-2A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.282-2A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.282-2A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.282-2A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.282-2A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.432-2A>T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.282-2A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.282-2A>T
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14902
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7486
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: c.282-2A>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

5-130897744-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130897744
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130897744
    reference: chr 5
allele count: 15
allele frequency: 1.242812401610685e-4
allele num: 120694
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.282-4A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.282-4A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.282-4A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.282-4A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.55-13861A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.282-4A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.282-4A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.282-4A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.432-4A>T
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14867
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28102
  bin: 6.25e1
  variant carriers: 0
hgvs: c.282-4A>T
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

5-130897744-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130897744
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130897744
    reference: chr 5
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.55-13861A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.282-4A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.282-4A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.432-4A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.282-4A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.282-4A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.282-4A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.282-4A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.282-4A>G
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 14867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 7.75e1
  variant carriers: 0
hgvs: c.282-4A>G
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/5-130897750-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130897750
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130897750
    reference: chr 5
allele count: 1
allele frequency: 8.291186468783682e-6
allele num: 120610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.282-10G>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.55-13867G>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.282-10G>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.282-10G>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.282-10G>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.432-10G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.282-10G>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.282-10G>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.282-10G>T
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11068
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

5-130897758-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130897758
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130897758
    reference: chr 5
allele count: 4
allele frequency: 3.32397081553624e-5
allele num: 120338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.282-18G>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.282-18G>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.282-18G>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.282-18G>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.282-18G>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.282-18G>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.282-18G>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.432-18G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.55-13875G>A
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14552
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10990
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

5-130897758-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130897758
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130897758
    reference: chr 5
allele count: 2
allele frequency: 1.66198540776812e-5
allele num: 120338
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.282-18G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.282-18G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.282-18G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.282-18G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.282-18G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.55-13875G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.282-18G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.432-18G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.282-18G>C
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/5-130897772-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130897772
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130897772
    reference: chr 5
allele count: 876
allele frequency: 7.355781341842304e-3
allele num: 119090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.282-32T>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.282-32T>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.282-32T>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.432-32T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.282-32T>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.282-32T>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.55-13889T>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.282-32T>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.282-32T>G
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 1.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 2.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9525
  bin: 3.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 12789
  bin: 2.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 4.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 16772
  bin: 3.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 5.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 4.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4320
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 2
num of homozygotes: 35
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

5-130897774-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130897774
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130897774
    reference: chr 5
allele count: 98
allele frequency: 8.2415272054495e-4
allele num: 118910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.282-34C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.55-13891C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.432-34C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.282-34C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.282-34C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.282-34C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.282-34C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.282-34C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.282-34C>T
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 16564
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9403
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 12704
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7251
  bin: 9.75e1
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 4636
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

5-130897775-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130897775
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130897775
    reference: chr 5
allele count: 1
allele frequency: 8.4199181583955e-6
allele num: 118766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.282-35C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.282-35C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.282-35C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.282-35C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.282-35C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.432-35C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.282-35C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.55-13892C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.282-35C>T
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3742
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

5-130897779-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130897779
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130897779
    reference: chr 5
allele count: 2
allele frequency: 1.692820747211078e-5
allele num: 118146
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.55-13896A>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.432-39A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.282-39A>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.282-39A>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.282-39A>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.282-39A>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.282-39A>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.282-39A>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.282-39A>C
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11183
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

5-130897780-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130897780
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130897780
    reference: chr 5
allele count: 1
allele frequency: 8.522097799594348e-6
allele num: 117342
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.282-40A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.282-40A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.55-13897A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.282-40A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.282-40A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.432-40A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.282-40A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.282-40A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.282-40A>G
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13161
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3754
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

5-130897781-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130897781
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130897781
    reference: chr 5
allele count: 1
allele frequency: 8.518032675173342e-6
allele num: 117398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.282-41T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.282-41T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.282-41T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.282-41T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.432-41T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.282-41T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.282-41T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.282-41T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.55-13898T>C
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7785
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5534
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum

5-130897782-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130897782
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130897782
    reference: chr 5
allele count: 1
allele frequency: 8.540730744922536e-6
allele num: 117086
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.282-42T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.55-13899T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.282-42T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.282-42T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.282-42T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.282-42T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.282-42T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.282-42T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.432-42T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12567
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14416
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

5-130928031-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928031
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928031
    reference: chr 5
allele count: 6
allele frequency: 5.62429696287964e-5
allele num: 106680
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.281+45T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.54+45T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.281+45T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.431+45T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.281+45T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.281+45T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.281+45T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.281+45T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.281+45T>C
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15898
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9415
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5814
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4407
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD

5-130928056-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928056
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928056
    reference: chr 5
allele count: 6
allele frequency: 5.357908272610373e-5
allele num: 111984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.281+20A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.281+20A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.281+20A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.54+20A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.431+20A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.281+20A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.281+20A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.281+20A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.281+20A>G
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10524
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40813
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4719
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

5-130928057-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928057
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928057
    reference: chr 5
allele count: 7
allele frequency: 6.235524674861928e-5
allele num: 112260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.281+19T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.431+19T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.281+19T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.281+19T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.281+19T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.281+19T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.54+19T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.281+19T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.281+19T>C
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33630
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

5-130928064-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928064
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928064
    reference: chr 5
allele count: 144
allele frequency: 1.262958480239962e-3
allele num: 114018
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.281+12T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.281+12T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.431+12T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.281+12T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.281+12T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.281+12T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.54+12T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.281+12T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.281+12T>C
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 34971
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11187
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 9.75e1
  variant carriers: 144
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

5-130928067-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928067
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928067
    reference: chr 5
allele count: 1
allele frequency: 8.724328662909389e-6
allele num: 114622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.54+9A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.431+9A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.281+9A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.281+9A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.281+9A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.281+9A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.281+9A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.281+9A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.281+9A>T
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

5-130928071-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928071
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928071
    reference: chr 5
allele count: 9
allele frequency: 7.802070149279609e-5
allele num: 115354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.281+5G>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.281+5G>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.281+5G>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.281+5G>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.431+5G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.54+5G>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.281+5G>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.281+5G>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.281+5G>A
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11645
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
hgvs: c.281+5G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-130928072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928072
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928072
    reference: chr 5
allele count: 2
allele frequency: 1.729834454842672e-5
allele num: 115618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.281+4C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.281+4C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.431+4C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.281+4C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.54+4C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.281+4C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.281+4C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.281+4C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.281+4C>T
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11760
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
hgvs: c.281+4C>T
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

5-130928081-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928081
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928081
    reference: chr 5
allele count: 1
allele frequency: 8.510638297872341e-6
allele num: 117500
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.426T>C
  hgvsp: ENST00000514667.1:c.426T>C(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.276T>C
  hgvsp: ENST00000296859.6:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.276T>C
  hgvsp: ENST00000507093.1:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.276T>C
  hgvsp: ENST00000307984.5:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.49T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.276T>C
  hgvsp: ENST00000515170.1:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.276T>C
  hgvsp: ENST00000509018.1:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.276T>C
  hgvsp: ENST00000308008.6:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.276T>C
  hgvsp: ENST00000510071.1:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro92Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

5-130928082-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928082
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928082
    reference: chr 5
allele count: 1
allele frequency: 8.500510030601837e-6
allele num: 117640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.48C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.275C>T
  hgvsp: ENSP00000425389.1:p.Pro92Leu
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.275C>T
  hgvsp: ENSP00000296859.6:p.Pro92Leu
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.425C>T
  hgvsp: ENSP00000426948.1:p.Pro142Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.275C>T
  hgvsp: ENSP00000426081.1:p.Pro92Leu
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.275C>T
  hgvsp: ENSP00000421684.1:p.Pro92Leu
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.275C>T
  hgvsp: ENSP00000311419.6:p.Pro92Leu
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.275C>T
  hgvsp: ENSP00000309298.5:p.Pro92Leu
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.275C>T
  hgvsp: ENSP00000425772.1:p.Pro92Leu
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro92Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

5-130928093-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928093
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928093
    reference: chr 5
allele count: 1
allele frequency: 8.428718329090879e-6
allele num: 118642
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.264G>C
  hgvsp: ENSP00000311419.6:p.Met88Ile
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.414G>C
  hgvsp: ENSP00000426948.1:p.Met138Ile
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.264G>C
  hgvsp: ENSP00000421684.1:p.Met88Ile
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.264G>C
  hgvsp: ENSP00000425389.1:p.Met88Ile
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.37G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.264G>C
  hgvsp: ENSP00000426081.1:p.Met88Ile
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.264G>C
  hgvsp: ENSP00000425772.1:p.Met88Ile
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.264G>C
  hgvsp: ENSP00000296859.6:p.Met88Ile
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.264G>C
  hgvsp: ENSP00000309298.5:p.Met88Ile
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met88Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS

5-130928107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928107
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928107
    reference: chr 5
allele count: 10
allele frequency: 8.413825598223e-5
allele num: 118852
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.400G>A
  hgvsp: ENSP00000426948.1:p.Val134Met
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.250G>A
  hgvsp: ENSP00000421684.1:p.Val84Met
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.250G>A
  hgvsp: ENSP00000425389.1:p.Val84Met
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.250G>A
  hgvsp: ENSP00000309298.5:p.Val84Met
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.250G>A
  hgvsp: ENSP00000426081.1:p.Val84Met
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.23G>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.250G>A
  hgvsp: ENSP00000296859.6:p.Val84Met
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.250G>A
  hgvsp: ENSP00000311419.6:p.Val84Met
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.250G>A
  hgvsp: ENSP00000425772.1:p.Val84Met
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val84Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

5-130928125-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928125
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928125
    reference: chr 5
allele count: 1
allele frequency: 8.473858147614609e-6
allele num: 118010
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.382C>G
  hgvsp: ENSP00000426948.1:p.Leu128Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.232C>G
  hgvsp: ENSP00000311419.6:p.Leu78Val
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.232C>G
  hgvsp: ENSP00000309298.5:p.Leu78Val
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.232C>G
  hgvsp: ENSP00000425389.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.232C>G
  hgvsp: ENSP00000421684.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.232C>G
  hgvsp: ENSP00000296859.6:p.Leu78Val
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.232C>G
  hgvsp: ENSP00000426081.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.232C>G
  hgvsp: ENSP00000425772.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.5C>G
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu78Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

5-130928126-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928126
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928126
    reference: chr 5
allele count: 38
allele frequency: 3.222469089737284e-4
allele num: 117922
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.381A>G
  hgvsp: ENST00000514667.1:c.381A>G(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.231A>G
  hgvsp: ENST00000296859.6:c.231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158987
  ensembl transcript: ENST00000503398
  gene symbol: RAPGEF6
  hgvsc: ENST00000503398.2:n.4A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.231A>G
  hgvsp: ENST00000507093.1:c.231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.231A>G
  hgvsp: ENST00000510071.1:c.231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.231A>G
  hgvsp: ENST00000509018.1:c.231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.231A>G
  hgvsp: ENST00000307984.5:c.231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.231A>G
  hgvsp: ENST00000515170.1:c.231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.231A>G
  hgvsp: ENST00000308008.6:c.231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13176
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35863
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu77Leu
num of homozygotes: 1
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

5-130928139-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928139
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928139
    reference: chr 5
allele count: 1
allele frequency: 8.608667206143144e-6
allele num: 116162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.218G>A
  hgvsp: ENSP00000421684.1:p.Cys73Tyr
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.218G>A
  hgvsp: ENSP00000311419.6:p.Cys73Tyr
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.218G>A
  hgvsp: ENSP00000296859.6:p.Cys73Tyr
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.218G>A
  hgvsp: ENSP00000425772.1:p.Cys73Tyr
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.218G>A
  hgvsp: ENSP00000426081.1:p.Cys73Tyr
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.218G>A
  hgvsp: ENSP00000425389.1:p.Cys73Tyr
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.218G>A
  hgvsp: ENSP00000309298.5:p.Cys73Tyr
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.368G>A
  hgvsp: ENSP00000426948.1:p.Cys123Tyr
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys73Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-130928153-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928153
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928153
    reference: chr 5
allele count: 1
allele frequency: 9.044535291776708e-6
allele num: 110564
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.354A>G
  hgvsp: ENST00000514667.1:c.354A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.204A>G
  hgvsp: ENST00000507093.1:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.204A>G
  hgvsp: ENST00000307984.5:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.204A>G
  hgvsp: ENST00000308008.6:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.204A>G
  hgvsp: ENST00000515170.1:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.204A>G
  hgvsp: ENST00000510071.1:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.204A>G
  hgvsp: ENST00000296859.6:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.204A>G
  hgvsp: ENST00000509018.1:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12253
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu68Glu
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

5-130928164-TTAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928164
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928160
    reference: chr 5
allele count: 1
allele frequency: 9.433962264150944e-6
allele num: 106000
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.348-9_348-6delTTTA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.198-9_198-6delTTTA
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.198-9_198-6delTTTA
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.198-9_198-6delTTTA
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.198-9_198-6delTTTA
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.198-9_198-6delTTTA
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.198-9_198-6delTTTA
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.198-9_198-6delTTTA
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22648
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11055
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
hgvs: c.198-9_198-6delTTTA
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: TTAAA
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-130928165-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928165
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928165
    reference: chr 5
allele count: 1
allele frequency: 9.519457771685325e-6
allele num: 105048
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.348-6A>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.198-6A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.198-6A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.198-6A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.198-6A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.198-6A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.198-6A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.198-6A>T
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3876
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 8.25e1
  variant carriers: 0
hgvs: c.198-6A>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-130928174-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928174
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928174
    reference: chr 5
allele count: 1
allele frequency: 9.910017045229318e-6
allele num: 100908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.198-15T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.198-15T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.198-15T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.198-15T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.198-15T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.198-15T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.348-15T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.198-15T>C
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15560
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

5-130928192-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928192
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928192
    reference: chr 5
allele count: 2
allele frequency: 2.12915451274299e-5
allele num: 93934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.198-33T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.198-33T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.198-33T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.198-33T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.198-33T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.198-33T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.348-33T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.198-33T>C
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3523
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/5-130928196-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928196
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928196
    reference: chr 5
allele count: 1
allele frequency: 1.081876406439328e-5
allele num: 92432
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.198-37T>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.198-37T>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.348-37T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.198-37T>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.198-37T>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.198-37T>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.198-37T>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.198-37T>G
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9389
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6857
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19799
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

5-130928200-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928200
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928200
    reference: chr 5
allele count: 1
allele frequency: 1.118618282697212e-5
allele num: 89396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.198-41T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.198-41T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.198-41T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.198-41T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.198-41T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.198-41T>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.348-41T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.198-41T>C
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4585
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-130928201-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928201
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928199
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 89214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.198-44_198-43delAT
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.198-44_198-43delAT
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.198-44_198-43delAT
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.198-44_198-43delAT
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.198-44_198-43delAT
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.348-44_348-43delAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.198-44_198-43delAT
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.198-44_198-43delAT
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12273
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4736
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18099
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: CAT
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum

5-130928202-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928202
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928202
    reference: chr 5
allele count: 52
allele frequency: 5.948023426061494e-4
allele num: 87424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.198-43T>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.198-43T>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.198-43T>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.198-43T>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.348-43T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.198-43T>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.198-43T>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.198-43T>A
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18931
  bin: 1.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13158
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10745
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4933
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4862
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

5-130928209-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928209
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928209
    reference: chr 5
allele count: 2
allele frequency: 2.401652336807724e-5
allele num: 83276
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.348-50A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.198-50A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.198-50A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.198-50A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.198-50A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.198-50A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.198-50A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.198-50A>G
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17918
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14364
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7267
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5003
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

5-130928211-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130928211
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130928211
    reference: chr 5
allele count: 4
allele frequency: 4.9838026414154e-5
allele num: 80260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.198-52A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.198-52A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.348-52A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.198-52A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.198-52A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.198-52A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.198-52A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.198-52A>G
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14565
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17729
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10934
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3431
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

5-130938930-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130938930
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130938930
    reference: chr 5
allele count: 2
allele frequency: 1.652073352056831e-5
allele num: 121060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.197+34C>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.197+34C>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.197+34C>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.197+34C>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.197+34C>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.197+34C>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.347+34C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.197+34C>A
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

5-130938939-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130938939
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130938939
    reference: chr 5
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.197+25A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.197+25A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.197+25A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.197+25A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.347+25A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.197+25A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.197+25A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.197+25A>G
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-130938941-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130938941
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130938941
    reference: chr 5
allele count: 24
allele frequency: 1.981538664773196e-4
allele num: 121118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.197+23T>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.197+23T>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.197+23T>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.197+23T>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.197+23T>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.197+23T>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.347+23T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.197+23T>A
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12222
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17802
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 7931
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

5-130938943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130938943
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130938943
    reference: chr 5
allele count: 38
allele frequency: 3.136970017170783e-4
allele num: 121136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.197+21C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.197+21C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.197+21C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.197+21C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.347+21C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.197+21C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.197+21C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.197+21C>T
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12221
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 14653
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

5-130938948-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130938948
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130938948
    reference: chr 5
allele count: 7
allele frequency: 5.777961205117623e-5
allele num: 121150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.197+16A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.197+16A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.347+16A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.197+16A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.197+16A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.197+16A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.197+16A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.197+16A>G
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ

5-130938951-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130938951
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130938951
    reference: chr 5
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.197+13A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.197+13A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.197+13A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.347+13A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.197+13A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.197+13A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.197+13A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.197+13A>G
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7944
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-130938959-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130938959
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130938959
    reference: chr 5
allele count: 2
allele frequency: 1.650464605786529e-5
allele num: 121178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.197+5G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.197+5G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.347+5G>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.197+5G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.197+5G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.197+5G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.197+5G>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.197+5G>C
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
hgvs: c.347+5G>C
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

5-130938960-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130938960
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130938960
    reference: chr 5
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.347+4A>C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.197+4A>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.197+4A>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.197+4A>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.197+4A>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.197+4A>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.197+4A>C
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.197+4A>C
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
hgvs: c.347+4A>C
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/5-130938974-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130938974
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130938974
    reference: chr 5
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.187G>T
  hgvsp: ENSP00000426081.1:p.Val63Phe
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.187G>T
  hgvsp: ENSP00000425772.1:p.Val63Phe
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.187G>T
  hgvsp: ENSP00000421684.1:p.Val63Phe
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.187G>T
  hgvsp: ENSP00000311419.6:p.Val63Phe
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.187G>T
  hgvsp: ENSP00000309298.5:p.Val63Phe
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.187G>T
  hgvsp: ENSP00000425389.1:p.Val63Phe
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.187G>T
  hgvsp: ENSP00000296859.6:p.Val63Phe
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.337G>T
  hgvsp: ENSP00000426948.1:p.Val113Phe
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17771
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val113Phe
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

5-130938987-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130938987
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130938987
    reference: chr 5
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.324C>T
  hgvsp: ENST00000514667.1:c.324C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.174C>T
  hgvsp: ENST00000509018.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.174C>T
  hgvsp: ENST00000307984.5:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.174C>T
  hgvsp: ENST00000515170.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.174C>T
  hgvsp: ENST00000510071.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.174C>T
  hgvsp: ENST00000507093.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.174C>T
  hgvsp: ENST00000308008.6:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.174C>T
  hgvsp: ENST00000296859.6:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7954
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr108Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/5-130938989-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130938989
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130938989
    reference: chr 5
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.172T>G
  hgvsp: ENSP00000425772.1:p.Tyr58Asp
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.172T>G
  hgvsp: ENSP00000425389.1:p.Tyr58Asp
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.172T>G
  hgvsp: ENSP00000309298.5:p.Tyr58Asp
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.172T>G
  hgvsp: ENSP00000311419.6:p.Tyr58Asp
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.172T>G
  hgvsp: ENSP00000296859.6:p.Tyr58Asp
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.172T>G
  hgvsp: ENSP00000426081.1:p.Tyr58Asp
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.172T>G
  hgvsp: ENSP00000421684.1:p.Tyr58Asp
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.322T>G
  hgvsp: ENSP00000426948.1:p.Tyr108Asp
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23039
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr108Asp
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-130938989-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130938989
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130938989
    reference: chr 5
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.172T>C
  hgvsp: ENSP00000296859.6:p.Tyr58His
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.172T>C
  hgvsp: ENSP00000426081.1:p.Tyr58His
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.322T>C
  hgvsp: ENSP00000426948.1:p.Tyr108His
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.172T>C
  hgvsp: ENSP00000425772.1:p.Tyr58His
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.172T>C
  hgvsp: ENSP00000311419.6:p.Tyr58His
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.172T>C
  hgvsp: ENSP00000309298.5:p.Tyr58His
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.172T>C
  hgvsp: ENSP00000421684.1:p.Tyr58His
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.172T>C
  hgvsp: ENSP00000425389.1:p.Tyr58His
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23039
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr108His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

5-130938992-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130938992
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130938992
    reference: chr 5
allele count: 8
allele frequency: 6.600768989587287e-5
allele num: 121198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.169A>C
  hgvsp: ENST00000515170.1:c.169A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.319A>C
  hgvsp: ENST00000514667.1:c.319A>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.169A>C
  hgvsp: ENST00000509018.1:c.169A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.169A>C
  hgvsp: ENST00000296859.6:c.169A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.169A>C
  hgvsp: ENST00000307984.5:c.169A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.169A>C
  hgvsp: ENST00000308008.6:c.169A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.169A>C
  hgvsp: ENST00000507093.1:c.169A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.169A>C
  hgvsp: ENST00000510071.1:c.169A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7953
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg107Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

5-130939000-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130939000
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130939000
    reference: chr 5
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.161G>A
  hgvsp: ENSP00000421684.1:p.Arg54His
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.161G>A
  hgvsp: ENSP00000425389.1:p.Arg54His
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.161G>A
  hgvsp: ENSP00000311419.6:p.Arg54His
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.161G>A
  hgvsp: ENSP00000309298.5:p.Arg54His
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.161G>A
  hgvsp: ENSP00000425772.1:p.Arg54His
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.311G>A
  hgvsp: ENSP00000426948.1:p.Arg104His
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.161G>A
  hgvsp: ENSP00000296859.6:p.Arg54His
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.161G>A
  hgvsp: ENSP00000426081.1:p.Arg54His
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg104His
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

5-130939001-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130939001
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130939001
    reference: chr 5
allele count: 1
allele frequency: 8.253821519363466e-6
allele num: 121156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.160C>T
  hgvsp: ENSP00000421684.1:p.Arg54Cys
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.160C>T
  hgvsp: ENSP00000425389.1:p.Arg54Cys
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.160C>T
  hgvsp: ENSP00000425772.1:p.Arg54Cys
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.160C>T
  hgvsp: ENSP00000426081.1:p.Arg54Cys
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.160C>T
  hgvsp: ENSP00000309298.5:p.Arg54Cys
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.160C>T
  hgvsp: ENSP00000311419.6:p.Arg54Cys
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.160C>T
  hgvsp: ENSP00000296859.6:p.Arg54Cys
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.310C>T
  hgvsp: ENSP00000426948.1:p.Arg104Cys
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg104Cys
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

5-130939002-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130939002
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130939002
    reference: chr 5
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.159A>G
  hgvsp: ENST00000515170.1:c.159A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.159A>G
  hgvsp: ENST00000507093.1:c.159A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.309A>G
  hgvsp: ENST00000514667.1:c.309A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.159A>G
  hgvsp: ENST00000510071.1:c.159A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.159A>G
  hgvsp: ENST00000308008.6:c.159A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.159A>G
  hgvsp: ENST00000296859.6:c.159A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.159A>G
  hgvsp: ENST00000509018.1:c.159A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.159A>G
  hgvsp: ENST00000307984.5:c.159A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7948
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala103Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum

5-130939007-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130939007
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130939007
    reference: chr 5
allele count: 1
allele frequency: 8.260912665631299e-6
allele num: 121052
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.304A>G
  hgvsp: ENSP00000426948.1:p.Arg102Gly
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.154A>G
  hgvsp: ENSP00000309298.5:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.154A>G
  hgvsp: ENSP00000296859.6:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.154A>G
  hgvsp: ENSP00000421684.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.154A>G
  hgvsp: ENSP00000425389.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.154A>G
  hgvsp: ENSP00000425772.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.154A>G
  hgvsp: ENSP00000426081.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.154A>G
  hgvsp: ENSP00000311419.6:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17760
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg102Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/5-130939019-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130939019
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130939019
    reference: chr 5
allele count: 16
allele frequency: 1.330649856123484e-4
allele num: 120242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.142T>G
  hgvsp: ENSP00000311419.6:p.Leu48Val
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.142T>G
  hgvsp: ENSP00000425389.1:p.Leu48Val
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.142T>G
  hgvsp: ENSP00000426081.1:p.Leu48Val
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.142T>G
  hgvsp: ENSP00000309298.5:p.Leu48Val
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.142T>G
  hgvsp: ENSP00000296859.6:p.Leu48Val
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.292T>G
  hgvsp: ENSP00000426948.1:p.Leu98Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.142T>G
  hgvsp: ENSP00000425772.1:p.Leu48Val
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.142T>G
  hgvsp: ENSP00000421684.1:p.Leu48Val
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8127
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu98Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

5-130939022-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130939022
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130939022
    reference: chr 5
allele count: 1
allele frequency: 8.324869715788949e-6
allele num: 120122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.141-2A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.141-2A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.141-2A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.291-2A>G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.141-2A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.141-2A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.141-2A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.141-2A>G
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 2.25e1
  variant carriers: 0
hgvs: c.291-2A>G
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

5-130939025-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130939025
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130939026
    reference: chr 5
allele count: 2186
allele frequency: 2.007899329475521e-2
allele num: 108870
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.141-6dupT
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.141-6dupT
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.291-6dupT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.141-6dupT
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.141-6dupT
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.141-6dupT
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.141-6dupT
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.141-6dupT
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 2.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 5.75e1
  variant carriers: 332
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11427
  bin: 2.75e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 3.75e1
  variant carriers: 340
genotype depth: GenotypeDepth
  all individuals: 13631
  bin: 3.25e1
  variant carriers: 261
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 4.75e1
  variant carriers: 438
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 6.75e1
  variant carriers: 198
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 4.25e1
  variant carriers: 425
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 9.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 8.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 6.25e1
  variant carriers: 265
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.25e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 414
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 9.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 3.25e1
  variant carriers: 201
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 1.75e1
  variant carriers: 276
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 2.25e1
  variant carriers: 233
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 2.5e0
  variant carriers: 223
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 8.25e1
  variant carriers: 48
hgvs: c.291-6dupT
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ

5-130939025-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130939025
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130939024
    reference: chr 5
allele count: 1510
allele frequency: 1.386975291632222e-2
allele num: 108870
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.291-6delT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.141-6delT
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.141-6delT
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.141-6delT
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.141-6delT
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.141-6delT
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.141-6delT
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.141-6delT
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 6.25e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 6.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 13631
  bin: 3.25e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 2.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 11427
  bin: 2.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 3.75e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 4.25e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 8.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 9.75e1
  variant carriers: 292
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 5.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 4.75e1
  variant carriers: 185
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 1.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 2.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 8.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 1.25e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 2.5e0
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 5.75e1
  variant carriers: 20
hgvs: c.291-6delT
num of homozygotes: 11
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: TA
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-130939026-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130939026
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130939026
    reference: chr 5
allele count: 1
allele frequency: 1.0948825191057e-5
allele num: 91334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.141-6T>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.141-6T>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.141-6T>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.141-6T>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.141-6T>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.291-6T>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.141-6T>A
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.141-6T>A
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3753
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6177
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 2.75e1
  variant carriers: 0
hgvs: c.291-6T>A
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

5-130939036-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130939036
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130939035
    reference: chr 5
allele count: 1
allele frequency: 8.43340979624882e-6
allele num: 118576
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.291-17delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.141-17delA
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.141-17delA
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.141-17delA
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.141-17delA
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.141-17delA
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.141-17delA
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.141-17delA
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17782
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: AT
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

5-130939037-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130939037
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130939037
    reference: chr 5
allele count: 138
allele frequency: 1.168323202221507e-3
allele num: 118118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.141-17A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.291-17A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.141-17A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.141-17A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.141-17A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.141-17A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.141-17A>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.141-17A>T
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18530
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17482
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 5257
  bin: 9.75e1
  variant carriers: 139
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

5-130939037-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130939037
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130939037
    reference: chr 5
allele count: 27
allele frequency: 2.285849743476862e-4
allele num: 118118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.141-17A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.141-17A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.141-17A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.141-17A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.141-17A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.141-17A>G
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.291-17A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.141-17A>G
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17482
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18530
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

5-130939039-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130939039
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 130939039
    reference: chr 5
allele count: 6
allele frequency: 5.080182209201904e-5
allele num: 118106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425389
  ensembl transcript: ENST00000510071
  gene symbol: RAPGEF6
  hgvsc: ENST00000510071.1:c.141-19C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000309298
  ensembl transcript: ENST00000307984
  gene symbol: RAPGEF6
  hgvsc: ENST00000307984.5:c.141-19C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273217
  ensembl protein: ENSP00000426948
  ensembl transcript: ENST00000514667
  gene symbol: CTC-432M15.3
  hgvsc: ENST00000514667.1:c.291-19C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000425772
  ensembl transcript: ENST00000515170
  gene symbol: RAPGEF6
  hgvsc: ENST00000515170.1:c.141-19C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000421684
  ensembl transcript: ENST00000509018
  gene symbol: RAPGEF6
  hgvsc: ENST00000509018.1:c.141-19C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000426081
  ensembl transcript: ENST00000507093
  gene symbol: RAPGEF6
  hgvsc: ENST00000507093.1:c.141-19C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000311419
  ensembl transcript: ENST00000308008
  gene symbol: RAPGEF6
  hgvsc: ENST00000308008.6:c.141-19C>T
  variant of: http://identifiers.org/hgnc/20655
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158987
  ensembl protein: ENSP00000296859
  ensembl transcript: ENST00000296859
  gene symbol: RAPGEF6
  hgvsc: ENST00000296859.6:c.141-19C>T
  variant of: http://identifiers.org/hgnc/20655
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5092
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 9319
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7532
bin: 9.75e1
variant carriers: 43

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2799
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4162
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 5.854625153871558e-4
allele num: 66614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.871467286101432e-4
allele num: 10332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 6608
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

DP
type: SiteQuality
SIO_000300: 2.16964e6

VQSLOD
type: SiteQuality
SIO_000300: 5.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.25e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.456e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

GenotypeQuality
all individuals: 4161
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7494
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3283
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11206
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1750
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
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: 10340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.338e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.122e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.101e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 9.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e0

VQSLOD
type: SiteQuality
SIO_000300: -9.638e-1

DP
type: SiteQuality
SIO_000300: 2.168091e6

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28593
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4162
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3287
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7495
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 125
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1207
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11200
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 6610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.370000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.769e0

FS
type: SiteQuality
SIO_000300: 2.727e0

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

QD
type: SiteQuality
SIO_000300: 1.055e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.168263e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.85e-1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11210
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7494
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4160
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2796
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3282
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28577
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
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: 1
allele frequency: 9.678668215253581e-5
allele num: 10332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.573e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1

QD
type: SiteQuality
SIO_000300: 1.079e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.1001e1

VQSLOD
type: SiteQuality
SIO_000300: -1.034e0

DP
type: SiteQuality
SIO_000300: 2.168159e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7492
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1751
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 11171
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4154
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2791
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3268
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28337
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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: 10194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.248e0

DP
type: SiteQuality
SIO_000300: 2.164312e6

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

FS
type: SiteQuality
SIO_000300: 1.145e0

QD
type: SiteQuality
SIO_000300: 1.068e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.066e0

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7491
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2791
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11126
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28194
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503171692270691e-5
allele num: 66526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.76e-1

DP
type: SiteQuality
SIO_000300: 2.161059e6

FS
type: SiteQuality
SIO_000300: 9.28e-1

QD
type: SiteQuality
SIO_000300: 1.6e1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 5.532e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.376e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.187e0

GenotypeQuality
all individuals: 78
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 493
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4148
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2792
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11122
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3252
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 28166
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.653836901611739e-4
allele num: 66512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
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: 16482
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: 8640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.172e0

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: -4.651e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.822e0

QD
type: SiteQuality
SIO_000300: 8.0e-1

DP
type: SiteQuality
SIO_000300: 2.1615e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7480
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1745
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11121
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4144
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1201
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2787
bin: 8.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.256928771327977e-4
allele num: 66462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.161271e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e0

VQSLOD
type: SiteQuality
SIO_000300: -5.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.343e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

FS
type: SiteQuality
SIO_000300: 4.947e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.558e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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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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bin: 4.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

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: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504619180885318e-5
allele num: 66462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 4.947e0

DP
type: SiteQuality
SIO_000300: 2.161271e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.558e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.343e0

VQSLOD
type: SiteQuality
SIO_000300: -5.5e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66422
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.69e-1

QD
type: SiteQuality
SIO_000300: 7.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.035e0

FS
type: SiteQuality
SIO_000300: 3.009e0

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

MQ
type: SiteQuality
SIO_000300: 5.848e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.245e0

DP
type: SiteQuality
SIO_000300: 2.156644e6

GenotypeQuality
all individuals: 1200
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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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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508295625942685e-5
allele num: 66300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.821714840903571e-4
allele num: 16468
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 2.148061e6

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.228e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.154e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

FS
type: SiteQuality
SIO_000300: 1.2291e1

VQSLOD
type: SiteQuality
SIO_000300: -1.679e0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 17
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01659125188537e-5
allele num: 66300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.679e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.228e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

DP
type: SiteQuality
SIO_000300: 2.148061e6

FS
type: SiteQuality
SIO_000300: 1.2291e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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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variant carriers: 838

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: 3
allele frequency: 3.355704697986577e-3
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 32
allele frequency: 2.803083391730904e-3
allele num: 11416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

African
type: Population
allele count: 787
allele frequency: 8.108386565011333e-2
allele num: 9706
num of homozygotes: 35

European (Non-Finnish)
type: Population
allele count: 54
allele frequency: 8.233464458878419e-4
allele num: 65586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.032145e6

QD
type: SiteQuality
SIO_000300: 1.777e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.22e0

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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variant carriers: 0

South Asian
type: Population
allele count: 98
allele frequency: 5.972696245733789e-3
allele num: 16408
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

FS
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 2.002462e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

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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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: 8496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.037129226301597e-4
allele num: 9642
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.54e-1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.982897e6

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.19e-1

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 117
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.080714725816389e-5
allele num: 64920
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.958e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

QD
type: SiteQuality
SIO_000300: 1.132e1

VQSLOD
type: SiteQuality
SIO_000300: -1.861e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.918196e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.69e-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: 7167
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variant carriers: 1

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.552843256001739e-5
allele num: 64398
num of homozygotes: 0

QD
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ClippingRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9442
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.551782998665467e-5
allele num: 64442
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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DP
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.128201985537444e-5
allele num: 16318
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64238
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.021e0

MQ
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SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 1.854987e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 8.262186725419994e-4
allele num: 7262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10754
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58288
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

FS
type: SiteQuality
SIO_000300: 2.166e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.242154e6

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

QD
type: SiteQuality
SIO_000300: 1.503e1

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.18464560484531e-5
allele num: 61090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11108
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.048437827636821e-4
allele num: 9538
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

FS
type: SiteQuality
SIO_000300: 3.728e0

DP
type: SiteQuality
SIO_000300: 1.433561e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 9.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

QD
type: SiteQuality
SIO_000300: 1.687e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.143193101646198e-4
allele num: 61232
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9568
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11110
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

ClippingRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
SIO_000300: 1.642e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 1.064919107106287e-2
allele num: 9766
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

Latino
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allele count: 18
allele frequency: 1.602849510240427e-3
allele num: 11230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.896871378910776e-4
allele num: 62136
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.141552511415525e-3
allele num: 876
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South Asian
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allele frequency: 1.968503937007874e-4
allele num: 15240
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VQSLOD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6486
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South Asian
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Other
type: Population
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Latino
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.601229744443733e-5
allele num: 62452
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African
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VQSLOD
type: SiteQuality
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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BaseQRankSum
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QD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 7
allele frequency: 1.113550316566447e-4
allele num: 62862
num of homozygotes: 0

Other
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European (Finnish)
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South Asian
type: Population
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Latino
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allele count: 1
allele frequency: 8.847991505928154e-5
allele num: 11302
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East Asian
type: Population
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allele frequency: 1.19047619047619e-4
allele num: 8400
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African
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allele count: 0
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
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MQRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.57e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.25e1
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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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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 5.75e1
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GenotypeQuality
all individuals: 799
bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.175107159866646e-5
allele num: 62990
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.271e0

MQRankSum
type: SiteQuality
SIO_000300: -5.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

DP
type: SiteQuality
SIO_000300: 1.486628e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

QD
type: SiteQuality
SIO_000300: 1.273e1

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 72
bin: 4.25e1
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GenotypeQuality
all individuals: 467
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.171508903467666e-4
allele num: 8536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64084
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15888
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.50978e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.82e-1

FS
type: SiteQuality
SIO_000300: 3.484e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.24e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1111
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variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15920
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.028e0

QD
type: SiteQuality
SIO_000300: 7.95e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.64e-1

DP
type: SiteQuality
SIO_000300: 1.511947e6

FS
type: SiteQuality
SIO_000300: 2.358e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 185
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.522533495736906e-4
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.524664e6

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.139e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

FS
type: SiteQuality
SIO_000300: 3.192e0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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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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variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.569306930693069e-4
allele num: 16160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.064e1

VQSLOD
type: SiteQuality
SIO_000300: 6.11e-1

DP
type: SiteQuality
SIO_000300: 1.528508e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.03e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 466
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552746809105307e-5
allele num: 64402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15998
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.958e0

DP
type: SiteQuality
SIO_000300: 1.516893e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.472e-1

QD
type: SiteQuality
SIO_000300: 3.82e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 36

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 170
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 38
allele frequency: 2.376782586940205e-3
allele num: 15988
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
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: 892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

DP
type: SiteQuality
SIO_000300: 1.516744e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

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: 132
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GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 378
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.807468733485996e-5
allele num: 11354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15652
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63374
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.507e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.4e0

MQRankSum
type: SiteQuality
SIO_000300: -1.177e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.952e0

VQSLOD
type: SiteQuality
SIO_000300: -1.731e0

DP
type: SiteQuality
SIO_000300: 1.494223e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 175
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 465
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GenotypeQuality
all individuals: 149
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GenotypeQuality
all individuals: 1162
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GenotypeQuality
all individuals: 4218
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GenotypeQuality
all individuals: 137
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GenotypeQuality
all individuals: 759
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GenotypeQuality
all individuals: 37114
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GenotypeQuality
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GenotypeQuality
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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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10984
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.289656951250967e-4
allele num: 7754
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60358
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9452
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.728011059270779e-5
allele num: 57870
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6132
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7174
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9040
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14322
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10632
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

QD
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MQ
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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SIO_000300: -2.1e-3

DP
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57306
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6100
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African
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allele frequency: 1.116569897275569e-4
allele num: 8956
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10554
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14236
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 3.14e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

VQSLOD
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-2

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

South Asian
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allele count: 1
allele frequency: 7.23589001447178e-5
allele num: 13820
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5968
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54954
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.369e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

DP
type: SiteQuality
SIO_000300: 1.213589e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51120
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.531862745098039e-4
allele num: 13056
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5748
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.456e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.047165e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.854e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.989574628944332e-5
allele num: 50262
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.883e1

BaseQRankSum
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SIO_000300: 2.12e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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ClippingRankSum
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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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5204
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.0610907292139e-5
allele num: 48518
num of homozygotes: 0

MQRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: -9.45e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

DP
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BaseQRankSum
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QD
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 7530
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9160
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5572
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Other
type: Population
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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MQ
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FS
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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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variant carriers: 1

European (Non-Finnish)
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allele count: 13
allele frequency: 2.740996879480476e-4
allele num: 47428
num of homozygotes: 0

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

Latino
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allele frequency: 4.36241610738255e-3
allele num: 8940
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5516
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African
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Other
type: Population
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num of homozygotes: 0

MQ
type: SiteQuality
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VQSLOD
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QD
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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SIO_000300: 9.88696e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 358
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5296
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.359046945034206e-4
allele num: 8478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.106e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.21e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.88e-1

DP
type: SiteQuality
SIO_000300: 9.75473e5

QD
type: SiteQuality
SIO_000300: 1.001e1

GenotypeQuality
all individuals: 1881
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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
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GenotypeQuality
all individuals: 357
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6810
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11958
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.233610341643582e-5
allele num: 43320
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.353e1

DP
type: SiteQuality
SIO_000300: 9.73639e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.461e0

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.31e-2

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2052
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004988280545706e-5
allele num: 66556
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

QD
type: SiteQuality
SIO_000300: 1.226e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.379e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 2.269e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

DP
type: SiteQuality
SIO_000300: 2.544222e6

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.545187e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-2

QD
type: SiteQuality
SIO_000300: 1.003e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-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: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.853024205657998e-4
allele num: 66596
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.723842862699339e-5
allele num: 10284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 6.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.0e0

QD
type: SiteQuality
SIO_000300: 1.231e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 2.546068e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-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
all individuals: 25
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variant carriers: 0

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

African
type: Population
allele count: 37
allele frequency: 3.594326792306198e-3
allele num: 10294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 5.77e-1

ClippingRankSum
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SIO_000300: -7.07e-1

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.093e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

DP
type: SiteQuality
SIO_000300: 2.547233e6

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10298
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South Asian
type: Population
allele count: 7
allele frequency: 4.240882103477523e-4
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

InbreedingCoeff
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

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

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

South Asian
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allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

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

Latino
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allele num: 11572
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 4.472e0

DP
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.50105073551486e-5
allele num: 66620
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Latino
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South Asian
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African
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East Asian
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European (Finnish)
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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MQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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DP
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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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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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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Other
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MQ
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DP
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FS
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

Latino
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Other
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South Asian
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African
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European (Non-Finnish)
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East Asian
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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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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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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European (Finnish)
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East Asian
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South Asian
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Other
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InbreedingCoeff
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BaseQRankSum
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MQ
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FS
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ClippingRankSum
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ReadPosRankSum
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QD
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MQRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Other
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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FS
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DP
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MQRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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QD
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InbreedingCoeff
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MQ
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BaseQRankSum
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FS
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DP
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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South Asian
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European (Non-Finnish)
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ReadPosRankSum
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QD
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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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FS
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BaseQRankSum
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SIO_000300: -2.963e0

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: 8.25e1
variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.191e1

FS
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

ReadPosRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

VQSLOD
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SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 2.544036e6

GenotypeQuality
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bin: 3.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66146
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16498
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: 16
allele frequency: 1.615508885298869e-3
allele num: 9904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 2.522398e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 1.525e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e-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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bin: 9.75e1
variant carriers: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.012965964343598e-4
allele num: 9872
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66078
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

QD
type: SiteQuality
SIO_000300: 1.532e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.518957e6

GenotypeQuality
all individuals: 798
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variant carriers: 127

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 250

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 68

GenotypeQuality
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bin: 8.75e1
variant carriers: 55

European (Non-Finnish)
type: Population
allele count: 751
allele frequency: 1.239764923402007e-2
allele num: 60576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 13
allele frequency: 2.009894867037724e-3
allele num: 6468
num of homozygotes: 0

Other
type: Population
allele count: 22
allele frequency: 2.763819095477387e-2
allele num: 796
num of homozygotes: 0

East Asian
type: Population
allele count: 75
allele frequency: 9.211495946941784e-3
allele num: 8142
num of homozygotes: 0

South Asian
type: Population
allele count: 1096
allele frequency: 8.311845897163658e-2
allele num: 13186
num of homozygotes: 0

African
type: Population
allele count: 127
allele frequency: 1.401766004415011e-2
allele num: 9060
num of homozygotes: 0

Latino
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allele count: 102
allele frequency: 9.584664536741214e-3
allele num: 10642
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.79e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

QD
type: SiteQuality
SIO_000300: 2.76e0

DP
type: SiteQuality
SIO_000300: 2.630952e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
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variant carriers: 1107

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11

Other
type: Population
allele count: 11
allele frequency: 1.381909547738694e-2
allele num: 796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 62
allele frequency: 9.5856524427953e-3
allele num: 6468
num of homozygotes: 1

Latino
type: Population
allele count: 82
allele frequency: 7.705318549144897e-3
allele num: 10642
num of homozygotes: 0

South Asian
type: Population
allele count: 164
allele frequency: 1.243743364174124e-2
allele num: 13186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 886
allele frequency: 1.462625462229266e-2
allele num: 60576
num of homozygotes: 3

African
type: Population
allele count: 277
allele frequency: 3.057395143487859e-2
allele num: 9060
num of homozygotes: 7

East Asian
type: Population
allele count: 28
allele frequency: 3.438958486858266e-3
allele num: 8142
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

QD
type: SiteQuality
SIO_000300: 2.76e0

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

DP
type: SiteQuality
SIO_000300: 2.630952e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.79e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51708
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 1.304801670146138e-4
allele num: 7664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7432
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.727e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.98e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

QD
type: SiteQuality
SIO_000300: 1.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.49e-1

DP
type: SiteQuality
SIO_000300: 2.316132e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65038
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9636
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.090133982947625e-5
allele num: 16420
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
SIO_000300: 3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

MQRankSum
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QD
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 2.005596e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

GenotypeQuality
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variant carriers: 0

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

South Asian
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: 8492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 113
allele frequency: 1.743880983980987e-3
allele num: 64798
num of homozygotes: 0

Latino
type: Population
allele count: 18
allele frequency: 1.568764162454244e-3
allele num: 11474
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.274837900020916e-4
allele num: 9562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.529519730804527e-4
allele num: 6538
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

DP
type: SiteQuality
SIO_000300: 1.98741e6

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

FS
type: SiteQuality
SIO_000300: 8.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 880
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GenotypeQuality
all individuals: 155
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.086515015895552e-5
allele num: 64798
num of homozygotes: 0

Other
type: Population
allele count: 0
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num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.357678229039568e-4
allele num: 11474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

African
type: Population
allele count: 20
allele frequency: 2.091612633340305e-3
allele num: 9562
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

FS
type: SiteQuality
SIO_000300: 8.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 1.98741e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

QD
type: SiteQuality
SIO_000300: 8.99e0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4714
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2585
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2208
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.532736693358455e-4
allele num: 8492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64778
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.221150323604836e-4
allele num: 16378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9558
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.14e0

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

DP
type: SiteQuality
SIO_000300: 1.967084e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3