17-38349661-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349661
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349661
    reference: chr 17
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1238G>A
  hgvsp: ENSP00000408322.3:p.Arg413Gln
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1403G>A
  hgvsp: ENSP00000394530.2:p.Arg468Gln
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1385G>A
  hgvsp: ENSP00000438631.1:p.Arg462Gln
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1238G>A
  hgvsp: ENSP00000264644.5:p.Arg413Gln
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1351G>A
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47541
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg413Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/17-38349663-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349663
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349663
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1353C>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1240C>A
  hgvsp: ENSP00000264644.5:p.Pro414Thr
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1405C>A
  hgvsp: ENSP00000394530.2:p.Pro469Thr
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1240C>A
  hgvsp: ENSP00000408322.3:p.Pro414Thr
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1387C>A
  hgvsp: ENSP00000438631.1:p.Pro463Thr
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47541
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro414Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum

17-38349665-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349665
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349665
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1389C>T
  hgvsp: ENST00000544503.1:c.1389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1242C>T
  hgvsp: ENST00000436615.3:c.1242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1242C>T
  hgvsp: ENST00000264644.6:c.1242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1407C>T
  hgvsp: ENST00000456989.2:c.1407C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1355C>T
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47540
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  variant carriers: 1
hgvs: p.Pro414Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-38349678-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349678
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349678
    reference: chr 17
allele count: 11
allele frequency: 9.061701952384875e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1246+9C>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1359+9C>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1246+9C>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1393+9C>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1411+9C>A
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47541
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

17-38349680-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349680
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349679
    reference: chr 17
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1246+14delG
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1393+14delG
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1246+14delG
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1359+14delG
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1411+14delG
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47535
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: AG
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

17-38349683-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349683
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349683
    reference: chr 17
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1246+14G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1393+14G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1359+14G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1411+14G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1246+14G>A
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

17-38349688-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349688
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349688
    reference: chr 17
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1393+19G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1359+19G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1246+19G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1411+19G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1246+19G>A
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6408
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47533
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum

17-38349699-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349699
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349699
    reference: chr 17
allele count: 11
allele frequency: 9.062448508815291e-5
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1246+30A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1411+30A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1246+30A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1359+30A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1393+30A>G
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS

17-38349718-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349718
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349718
    reference: chr 17
allele count: 2
allele frequency: 1.648315421639085e-5
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1246+49C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1411+49C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1393+49C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1246+49C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1359+49C>T
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

17-38349719-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349719
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349719
    reference: chr 17
allele count: 3
allele frequency: 2.472187886279357e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1393+50G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1411+50G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1359+50G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1246+50G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1246+50G>A
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47515
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
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: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

17-38349801-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349801
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349801
    reference: chr 17
allele count: 8
allele frequency: 6.676013084985647e-5
allele num: 119832
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1360-115G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1247-115G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1412-115G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1247-115G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1394-115G>A
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10296
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10761
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 142
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 8673
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18074
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3458
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-38349802-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349802
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349802
    reference: chr 17
allele count: 2
allele frequency: 1.668780455243308e-5
allele num: 119848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1394-114A>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1360-114A>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1247-114A>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1247-114A>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1412-114A>C
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4971
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-38349810-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349810
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349810
    reference: chr 17
allele count: 2
allele frequency: 1.669755714738934e-5
allele num: 119778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1412-106C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1247-106C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1247-106C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1360-106C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1394-106C>T
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10333
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 925
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10427
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-38349819-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349819
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349819
    reference: chr 17
allele count: 1
allele frequency: 8.333194446759221e-6
allele num: 120002
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1247-97A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1394-97A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1412-97A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1360-97A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1247-97A>G
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5138
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 50
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genotype quality: GenotypeQuality
  all individuals: 869
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genotype quality: GenotypeQuality
  all individuals: 372
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genotype quality: GenotypeQuality
  all individuals: 11598
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

17-38349836-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349836
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349836
    reference: chr 17
allele count: 1
allele frequency: 8.313104778372627e-6
allele num: 120292
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1247-80G>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1412-80G>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1394-80G>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1247-80G>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1360-80G>C
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 966
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4714
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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

17-38349852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349852
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349852
    reference: chr 17
allele count: 6
allele frequency: 4.97801377250477e-5
allele num: 120530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1247-64G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1247-64G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1360-64G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1394-64G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1412-64G>A
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3793
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

17-38349858-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349858
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349858
    reference: chr 17
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1247-58T>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1394-58T>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1360-58T>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1412-58T>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1247-58T>A
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11725
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3872
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18252
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6578
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

17-38349863-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349863
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349863
    reference: chr 17
allele count: 4
allele frequency: 3.306495610627077e-5
allele num: 120974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1360-53A>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1247-53A>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1247-53A>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1412-53A>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1394-53A>T
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9219
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6448
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9715
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6600
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5481
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13981
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18261
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

17-38349869-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349869
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349869
    reference: chr 17
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1394-47A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1412-47A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1247-47A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1360-47A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1247-47A>G
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

17-38349878-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349878
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349878
    reference: chr 17
allele count: 2
allele frequency: 1.65016501650165e-5
allele num: 121200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1412-38G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1247-38G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1360-38G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1394-38G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1247-38G>A
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9840
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6689
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-38349879-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349879
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349879
    reference: chr 17
allele count: 2
allele frequency: 1.649838315845047e-5
allele num: 121224
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1247-37C>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1394-37C>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1360-37C>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1247-37C>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1412-37C>G
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6694
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

17-38349880-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349880
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349879
    reference: chr 17
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1247-33delG
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1394-33delG
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1360-33delG
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1412-33delG
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1247-33delG
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18264
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: TG
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-38349882-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349882
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349882
    reference: chr 17
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1360-34G>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1247-34G>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1394-34G>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1412-34G>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1247-34G>C
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2793
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5519
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3921
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3784
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

17-38349898-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349898
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349898
    reference: chr 17
allele count: 82
allele frequency: 6.757090825189117e-4
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1394-18T>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1412-18T>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1247-18T>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1360-18T>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1247-18T>C
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6459
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12227
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9247
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5521
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4847
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3775
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

17-38349899-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349899
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349899
    reference: chr 17
allele count: 3
allele frequency: 2.472187886279357e-5
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1394-17C>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1247-17C>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1247-17C>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1360-17C>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1412-17C>G
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4855
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5526
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3779
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

17-38349908-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349908
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349908
    reference: chr 17
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1247-8C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1247-8C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1394-8C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1360-8C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1412-8C>T
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14676
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3778
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1247-8C>T
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-38349911-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349911
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349911
    reference: chr 17
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1247-5A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1360-5A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1394-5A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1412-5A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1247-5A>G
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4855
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14696
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1247-5A>G
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

17-38349916-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349916
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349916
    reference: chr 17
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1360G>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1247G>C
  hgvsp: ENSP00000264644.5:p.Cys416Ser
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1394G>C
  hgvsp: ENSP00000438631.1:p.Cys465Ser
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1247G>C
  hgvsp: ENSP00000408322.3:p.Cys416Ser
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1412G>C
  hgvsp: ENSP00000394530.2:p.Cys471Ser
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5532
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4856
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys416Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

17-38349920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349920
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349920
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1251G>A
  hgvsp: ENST00000264644.6:c.1251G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1398G>A
  hgvsp: ENST00000544503.1:c.1398G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1251G>A
  hgvsp: ENST00000436615.3:c.1251G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1416G>A
  hgvsp: ENST00000456989.2:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1364G>A
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12388
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3779
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18289
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4858
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu417Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-38349921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349921
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349921
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1252G>A
  hgvsp: ENSP00000264644.5:p.Asp418Asn
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1399G>A
  hgvsp: ENSP00000438631.1:p.Asp467Asn
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1365G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1417G>A
  hgvsp: ENSP00000394530.2:p.Asp473Asn
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1252G>A
  hgvsp: ENSP00000408322.3:p.Asp418Asn
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5536
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4858
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14712
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp418Asn
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

17-38349923-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349923
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349923
    reference: chr 17
allele count: 75
allele frequency: 6.178433149353325e-4
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1254C>T
  hgvsp: ENST00000264644.6:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1254C>T
  hgvsp: ENST00000436615.3:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1401C>T
  hgvsp: ENST00000544503.1:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1419C>T
  hgvsp: ENST00000456989.2:c.1419C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1367C>T
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12376
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12275
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4850
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14699
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6743
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5523
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp418Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/17-38349924-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349924
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349924
    reference: chr 17
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1420A>C
  hgvsp: ENSP00000394530.2:p.Met474Leu
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1255A>C
  hgvsp: ENSP00000408322.3:p.Met419Leu
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1402A>C
  hgvsp: ENSP00000438631.1:p.Met468Leu
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1255A>C
  hgvsp: ENSP00000264644.5:p.Met419Leu
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1368A>C
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4854
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18310
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met419Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

17-38349929-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349929
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349929
    reference: chr 17
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1425G>C
  hgvsp: ENSP00000394530.2:p.Glu475Asp
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1260G>C
  hgvsp: ENSP00000408322.3:p.Glu420Asp
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1260G>C
  hgvsp: ENSP00000264644.5:p.Glu420Asp
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1373G>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1407G>C
  hgvsp: ENSP00000438631.1:p.Glu469Asp
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5522
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4857
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6741
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu420Asp
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

17-38349938-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349938
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349938
    reference: chr 17
allele count: 20
allele frequency: 1.647446457990115e-4
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1434C>T
  hgvsp: ENST00000456989.2:c.1434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1382C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1269C>T
  hgvsp: ENST00000264644.6:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1269C>T
  hgvsp: ENST00000436615.3:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1416C>T
  hgvsp: ENST00000544503.1:c.1416C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18323
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro423Pro
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

17-38349940-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349940
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349940
    reference: chr 17
allele count: 9
allele frequency: 7.413509060955519e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1384A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1271A>G
  hgvsp: ENSP00000408322.3:p.Asn424Ser
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1271A>G
  hgvsp: ENSP00000264644.5:p.Asn424Ser
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1436A>G
  hgvsp: ENSP00000394530.2:p.Asn479Ser
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1418A>G
  hgvsp: ENSP00000438631.1:p.Asn473Ser
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5519
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn424Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-38349944-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349944
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349944
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1388C>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1440C>G
  hgvsp: ENSP00000394530.2:p.His480Gln
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1275C>G
  hgvsp: ENSP00000408322.3:p.His425Gln
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1275C>G
  hgvsp: ENSP00000264644.5:p.His425Gln
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1422C>G
  hgvsp: ENSP00000438631.1:p.His474Gln
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18315
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4857
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His425Gln
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

17-38349944-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349944
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349944
    reference: chr 17
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1440C>T
  hgvsp: ENST00000456989.2:c.1440C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1422C>T
  hgvsp: ENST00000544503.1:c.1422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1275C>T
  hgvsp: ENST00000436615.3:c.1275C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1388C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1275C>T
  hgvsp: ENST00000264644.6:c.1275C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5516
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His425His
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

17-38349947-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349947
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349947
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1391G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1278G>A
  hgvsp: ENST00000264644.6:c.1278G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1443G>A
  hgvsp: ENST00000456989.2:c.1443G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1278G>A
  hgvsp: ENST00000436615.3:c.1278G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1425G>A
  hgvsp: ENST00000544503.1:c.1425G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu426Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-38349951-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349951
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349951
    reference: chr 17
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1282A>T
  hgvsp: ENSP00000408322.3:p.Thr428Ser
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1282A>T
  hgvsp: ENSP00000264644.5:p.Thr428Ser
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1429A>T
  hgvsp: ENSP00000438631.1:p.Thr477Ser
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1447A>T
  hgvsp: ENSP00000394530.2:p.Thr483Ser
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1395A>T
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5515
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr428Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

17-38349966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349966
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349966
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1297C>T
  hgvsp: ENSP00000408322.3:p.Arg433Cys
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1410C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1462C>T
  hgvsp: ENSP00000394530.2:p.Arg488Cys
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1297C>T
  hgvsp: ENSP00000264644.5:p.Arg433Cys
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1444C>T
  hgvsp: ENSP00000438631.1:p.Arg482Cys
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14693
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5518
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg433Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

17-38349978-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349978
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349978
    reference: chr 17
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1474G>A
  hgvsp: ENSP00000394530.2:p.Val492Ile
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1309G>A
  hgvsp: ENSP00000408322.3:p.Val437Ile
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1309G>A
  hgvsp: ENSP00000264644.5:p.Val437Ile
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1422G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1456G>A
  hgvsp: ENSP00000438631.1:p.Val486Ile
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4854
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3782
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18316
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val437Ile
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-38349978-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349978
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349978
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1309G>C
  hgvsp: ENSP00000408322.3:p.Val437Leu
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1474G>C
  hgvsp: ENSP00000394530.2:p.Val492Leu
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1456G>C
  hgvsp: ENSP00000438631.1:p.Val486Leu
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1309G>C
  hgvsp: ENSP00000264644.5:p.Val437Leu
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1422G>C
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6770
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val437Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-38349983-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349983
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349983
    reference: chr 17
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1461C>T
  hgvsp: ENST00000544503.1:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1314C>T
  hgvsp: ENST00000436615.3:c.1314C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1427C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1479C>T
  hgvsp: ENST00000456989.2:c.1479C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1314C>T
  hgvsp: ENST00000264644.6:c.1314C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4855
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile438Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-38349984-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38349984
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38349984
    reference: chr 17
allele count: 11
allele frequency: 9.061104795795647e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1315G>A
  hgvsp: ENSP00000408322.3:p.Asp439Asn
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1428G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1462G>A
  hgvsp: ENSP00000438631.1:p.Asp488Asn
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1315G>A
  hgvsp: ENSP00000264644.5:p.Asp439Asn
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1480G>A
  hgvsp: ENSP00000394530.2:p.Asp494Asn
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3784
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14682
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp439Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-38350004-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350004
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350004
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1482C>T
  hgvsp: ENST00000544503.1:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1500C>T
  hgvsp: ENST00000456989.2:c.1500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1448C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1335C>T
  hgvsp: ENST00000436615.3:c.1335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1335C>T
  hgvsp: ENST00000264644.6:c.1335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14667
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe445Phe
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

17-38350005-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350005
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350005
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1336G>A
  hgvsp: ENSP00000264644.5:p.Glu446Lys
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1449G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1336G>A
  hgvsp: ENSP00000408322.3:p.Glu446Lys
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1501G>A
  hgvsp: ENSP00000394530.2:p.Glu501Lys
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1483G>A
  hgvsp: ENSP00000438631.1:p.Glu495Lys
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14664
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu446Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

17-38350008-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350008
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350008
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1504C>T
  hgvsp: ENSP00000394530.2:p.Leu502Phe
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1486C>T
  hgvsp: ENSP00000438631.1:p.Leu496Phe
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1339C>T
  hgvsp: ENSP00000408322.3:p.Leu447Phe
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1452C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1339C>T
  hgvsp: ENSP00000264644.5:p.Leu447Phe
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5505
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu447Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD

17-38350010-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350010
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350010
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1506C>T
  hgvsp: ENST00000456989.2:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1454C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1341C>T
  hgvsp: ENST00000436615.3:c.1341C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1488C>T
  hgvsp: ENST00000544503.1:c.1488C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1341C>T
  hgvsp: ENST00000264644.6:c.1341C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18316
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5506
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu447Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum

17-38350013-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350013
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350013
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1509C>T
  hgvsp: ENST00000456989.2:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1344C>T
  hgvsp: ENST00000436615.3:c.1344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1491C>T
  hgvsp: ENST00000544503.1:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1457C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1344C>T
  hgvsp: ENST00000264644.6:c.1344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5506
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18316
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser448Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

17-38350020-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350020
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350020
    reference: chr 17
allele count: 19
allele frequency: 1.565203064502842e-4
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1464C>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1351C>G
  hgvsp: ENSP00000264644.5:p.Leu451Val
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1351C>G
  hgvsp: ENSP00000408322.3:p.Leu451Val
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1516C>G
  hgvsp: ENSP00000394530.2:p.Leu506Val
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1498C>G
  hgvsp: ENSP00000438631.1:p.Leu500Val
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6747
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3930
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu451Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

17-38350023-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350023
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350023
    reference: chr 17
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1354G>A
  hgvsp: ENSP00000408322.3:p.Glu452Lys
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1501G>A
  hgvsp: ENSP00000438631.1:p.Glu501Lys
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1519G>A
  hgvsp: ENSP00000394530.2:p.Glu507Lys
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1467G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1354G>A
  hgvsp: ENSP00000264644.5:p.Glu452Lys
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6750
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5498
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18318
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu452Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-38350027-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350027
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350028
    reference: chr 17
allele count: 18
allele frequency: 1.48294611962432e-4
allele num: 121380
alternate allele: CA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1361dupA
  hgvsp: ENSP00000408322.3:p.Asn454LysfsTer32
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1361dupA
  hgvsp: ENSP00000264644.5:p.Asn454LysfsTer32
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1474dupA
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1526dupA
  hgvsp: ENSP00000394530.2:p.Asn509LysfsTer?
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1508dupA
  hgvsp: ENSP00000438631.1:p.Asn503LysfsTer32
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18333
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn454LysfsTer32
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

17-38350031-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350031
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350031
    reference: chr 17
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1527C>G
  hgvsp: ENSP00000394530.2:p.Asn509Lys
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1362C>G
  hgvsp: ENSP00000264644.5:p.Asn454Lys
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1362C>G
  hgvsp: ENSP00000408322.3:p.Asn454Lys
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1509C>G
  hgvsp: ENSP00000438631.1:p.Asn503Lys
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1475C>G
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18323
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn454Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

17-38350031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350031
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350031
    reference: chr 17
allele count: 6
allele frequency: 4.943398091848337e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000394530
  ensembl transcript: ENST00000456989
  gene symbol: RAPGEFL1
  hgvsc: ENST00000456989.2:c.1527C>T
  hgvsp: ENST00000456989.2:c.1527C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.1509C>T
  hgvsp: ENST00000544503.1:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1475C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.1362C>T
  hgvsp: ENST00000264644.6:c.1362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.1362C>T
  hgvsp: ENST00000436615.3:c.1362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4850
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn454Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

17-38350041-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350041
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350041
    reference: chr 17
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1485G>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.*1G>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.*1G>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.*1G>C
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3906
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4848
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14461
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

17-38350045-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350045
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350045
    reference: chr 17
allele count: 7
allele frequency: 5.769294168067781e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.*5G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1489G>A
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.*5G>A
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12299
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9214
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3902
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18325
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5483
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-38350054-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350054
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350054
    reference: chr 17
allele count: 2
allele frequency: 1.648967746190884e-5
allele num: 121288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.*14A>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.*14A>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.*14A>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1498A>C
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6556
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3887
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2785
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ

17-38350054-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350054
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350054
    reference: chr 17
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.*14A>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.*14A>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.*14A>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1498A>T
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3887
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
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genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18317
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-38350063-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350063
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350063
    reference: chr 17
allele count: 73
allele frequency: 6.017839183552339e-4
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.*23C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.*23C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1507C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.*23C>T
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12070
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9465
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12223
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 14078
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3873
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18454
  bin: 9.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5484
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4857
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-38350065-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350065
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350065
    reference: chr 17
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.*25C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.*25C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.*25C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1509C>T
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9207
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12085
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2793
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4867
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3802
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18402
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-38350067-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350067
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350067
    reference: chr 17
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1511A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.*27A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.*27A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.*27A>G
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18401
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4866
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14058
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

17-38350070-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350070
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350070
    reference: chr 17
allele count: 15
allele frequency: 1.236603462489695e-4
allele num: 121300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.*30T>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1514T>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.*30T>C
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.*30T>C
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9315
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12030
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12193
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13909
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3801
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5488
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18412
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-38350080-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350080
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350080
    reference: chr 17
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108352
  ensembl transcript: ENST00000545893
  gene symbol: RAPGEFL1
  hgvsc: ENST00000545893.1:n.1524C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.*40C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.*40C>T
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12168
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5475
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3807
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3852
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6460
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

17-38350086-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350086
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350086
    reference: chr 17
allele count: 2
allele frequency: 1.649756660892518e-5
allele num: 121230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.*46A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.*46A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.*46A>G
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9214
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18404
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12223
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4862
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3833
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

17-38350087-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350087
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350087
    reference: chr 17
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.*47C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.*47C>T
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.*47C>T
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3830
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6351
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3805
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5478
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18404
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4860
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12333
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-38350091-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38350091
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38350091
    reference: chr 17
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000408322
  ensembl transcript: ENST00000436615
  gene symbol: RAPGEFL1
  hgvsc: ENST00000436615.3:c.*51A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000264644
  ensembl transcript: ENST00000264644
  gene symbol: RAPGEFL1
  hgvsc: ENST00000264644.6:c.*51A>G
  variant of: http://identifiers.org/hgnc/17428
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000108352
  ensembl protein: ENSP00000438631
  ensembl transcript: ENST00000544503
  gene symbol: RAPGEFL1
  hgvsc: ENST00000544503.1:c.*51A>G
  variant of: http://identifiers.org/hgnc/17428
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18408
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2793
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6281
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4861
  bin: 8.25e1
  variant carriers: 0
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: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-38412663-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38412663
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38412663
    reference: chr 17
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000439175
  ensembl transcript: ENST00000536600
  gene symbol: WIPF2
  hgvsc: ENST00000536600.1:c.-49T>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000463149
  ensembl transcript: ENST00000584296
  gene symbol: WIPF2
  hgvsc: ENST00000584296.1:c.-49T>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000320924
  ensembl transcript: ENST00000323571
  gene symbol: WIPF2
  hgvsc: ENST00000323571.4:c.-49T>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462386
  ensembl transcript: ENST00000583268
  gene symbol: WIPF2
  hgvsc: ENST00000583268.1:c.-183T>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171475
  ensembl transcript: ENST00000494757
  gene symbol: WIPF2
  hgvsc: ENST00000494757.1:n.172-4124T>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171475
  ensembl transcript: ENST00000578304
  gene symbol: WIPF2
  hgvsc: ENST00000578304.1:n.24T>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000377663
  ensembl transcript: ENST00000394103
  gene symbol: WIPF2
  hgvsc: ENST00000394103.3:c.-49T>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462826
  ensembl transcript: ENST00000585043
  gene symbol: WIPF2
  hgvsc: ENST00000585043.1:c.-49T>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462350
  ensembl transcript: ENST00000583130
  gene symbol: WIPF2
  hgvsc: ENST00000583130.1:c.-49T>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000463869
  ensembl transcript: ENST00000582781
  gene symbol: WIPF2
  hgvsc: ENST00000582781.1:c.-49T>A
  variant of: http://identifiers.org/hgnc/30923
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

17-38412670-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38412670
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38412670
    reference: chr 17
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462386
  ensembl transcript: ENST00000583268
  gene symbol: WIPF2
  hgvsc: ENST00000583268.1:c.-176A>G
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000463869
  ensembl transcript: ENST00000582781
  gene symbol: WIPF2
  hgvsc: ENST00000582781.1:c.-42A>G
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171475
  ensembl transcript: ENST00000494757
  gene symbol: WIPF2
  hgvsc: ENST00000494757.1:n.172-4117A>G
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000463149
  ensembl transcript: ENST00000584296
  gene symbol: WIPF2
  hgvsc: ENST00000584296.1:c.-42A>G
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000439175
  ensembl transcript: ENST00000536600
  gene symbol: WIPF2
  hgvsc: ENST00000536600.1:c.-42A>G
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462826
  ensembl transcript: ENST00000585043
  gene symbol: WIPF2
  hgvsc: ENST00000585043.1:c.-42A>G
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000320924
  ensembl transcript: ENST00000323571
  gene symbol: WIPF2
  hgvsc: ENST00000323571.4:c.-42A>G
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462350
  ensembl transcript: ENST00000583130
  gene symbol: WIPF2
  hgvsc: ENST00000583130.1:c.-42A>G
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000377663
  ensembl transcript: ENST00000394103
  gene symbol: WIPF2
  hgvsc: ENST00000394103.3:c.-42A>G
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171475
  ensembl transcript: ENST00000578304
  gene symbol: WIPF2
  hgvsc: ENST00000578304.1:n.31A>G
  variant of: http://identifiers.org/hgnc/30923
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

17-38412676-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38412676
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38412676
    reference: chr 17
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462826
  ensembl transcript: ENST00000585043
  gene symbol: WIPF2
  hgvsc: ENST00000585043.1:c.-36G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462350
  ensembl transcript: ENST00000583130
  gene symbol: WIPF2
  hgvsc: ENST00000583130.1:c.-36G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000463149
  ensembl transcript: ENST00000584296
  gene symbol: WIPF2
  hgvsc: ENST00000584296.1:c.-36G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171475
  ensembl transcript: ENST00000578304
  gene symbol: WIPF2
  hgvsc: ENST00000578304.1:n.37G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000439175
  ensembl transcript: ENST00000536600
  gene symbol: WIPF2
  hgvsc: ENST00000536600.1:c.-36G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171475
  ensembl transcript: ENST00000494757
  gene symbol: WIPF2
  hgvsc: ENST00000494757.1:n.172-4111G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000463869
  ensembl transcript: ENST00000582781
  gene symbol: WIPF2
  hgvsc: ENST00000582781.1:c.-36G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000320924
  ensembl transcript: ENST00000323571
  gene symbol: WIPF2
  hgvsc: ENST00000323571.4:c.-36G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462386
  ensembl transcript: ENST00000583268
  gene symbol: WIPF2
  hgvsc: ENST00000583268.1:c.-170G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000377663
  ensembl transcript: ENST00000394103
  gene symbol: WIPF2
  hgvsc: ENST00000394103.3:c.-36G>A
  variant of: http://identifiers.org/hgnc/30923
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

17-38412678-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38412678
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38412678
    reference: chr 17
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462386
  ensembl transcript: ENST00000583268
  gene symbol: WIPF2
  hgvsc: ENST00000583268.1:c.-168A>G
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171475
  ensembl transcript: ENST00000578304
  gene symbol: WIPF2
  hgvsc: ENST00000578304.1:n.39A>G
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000463149
  ensembl transcript: ENST00000584296
  gene symbol: WIPF2
  hgvsc: ENST00000584296.1:c.-34A>G
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000377663
  ensembl transcript: ENST00000394103
  gene symbol: WIPF2
  hgvsc: ENST00000394103.3:c.-34A>G
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462826
  ensembl transcript: ENST00000585043
  gene symbol: WIPF2
  hgvsc: ENST00000585043.1:c.-34A>G
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000439175
  ensembl transcript: ENST00000536600
  gene symbol: WIPF2
  hgvsc: ENST00000536600.1:c.-34A>G
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000320924
  ensembl transcript: ENST00000323571
  gene symbol: WIPF2
  hgvsc: ENST00000323571.4:c.-34A>G
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462350
  ensembl transcript: ENST00000583130
  gene symbol: WIPF2
  hgvsc: ENST00000583130.1:c.-34A>G
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000463869
  ensembl transcript: ENST00000582781
  gene symbol: WIPF2
  hgvsc: ENST00000582781.1:c.-34A>G
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171475
  ensembl transcript: ENST00000494757
  gene symbol: WIPF2
  hgvsc: ENST00000494757.1:n.172-4109A>G
  variant of: http://identifiers.org/hgnc/30923
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-38412683-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38412683
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38412683
    reference: chr 17
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462826
  ensembl transcript: ENST00000585043
  gene symbol: WIPF2
  hgvsc: ENST00000585043.1:c.-29G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000377663
  ensembl transcript: ENST00000394103
  gene symbol: WIPF2
  hgvsc: ENST00000394103.3:c.-29G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462350
  ensembl transcript: ENST00000583130
  gene symbol: WIPF2
  hgvsc: ENST00000583130.1:c.-29G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000463149
  ensembl transcript: ENST00000584296
  gene symbol: WIPF2
  hgvsc: ENST00000584296.1:c.-29G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171475
  ensembl transcript: ENST00000494757
  gene symbol: WIPF2
  hgvsc: ENST00000494757.1:n.172-4104G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000320924
  ensembl transcript: ENST00000323571
  gene symbol: WIPF2
  hgvsc: ENST00000323571.4:c.-29G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171475
  ensembl transcript: ENST00000578304
  gene symbol: WIPF2
  hgvsc: ENST00000578304.1:n.44G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462386
  ensembl transcript: ENST00000583268
  gene symbol: WIPF2
  hgvsc: ENST00000583268.1:c.-163G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000463869
  ensembl transcript: ENST00000582781
  gene symbol: WIPF2
  hgvsc: ENST00000582781.1:c.-29G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000439175
  ensembl transcript: ENST00000536600
  gene symbol: WIPF2
  hgvsc: ENST00000536600.1:c.-29G>A
  variant of: http://identifiers.org/hgnc/30923
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD

17-38412686-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38412686
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38412686
    reference: chr 17
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000463149
  ensembl transcript: ENST00000584296
  gene symbol: WIPF2
  hgvsc: ENST00000584296.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000377663
  ensembl transcript: ENST00000394103
  gene symbol: WIPF2
  hgvsc: ENST00000394103.3:c.-26C>T
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000320924
  ensembl transcript: ENST00000323571
  gene symbol: WIPF2
  hgvsc: ENST00000323571.4:c.-26C>T
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171475
  ensembl transcript: ENST00000578304
  gene symbol: WIPF2
  hgvsc: ENST00000578304.1:n.47C>T
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462826
  ensembl transcript: ENST00000585043
  gene symbol: WIPF2
  hgvsc: ENST00000585043.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000439175
  ensembl transcript: ENST00000536600
  gene symbol: WIPF2
  hgvsc: ENST00000536600.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000463869
  ensembl transcript: ENST00000582781
  gene symbol: WIPF2
  hgvsc: ENST00000582781.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462350
  ensembl transcript: ENST00000583130
  gene symbol: WIPF2
  hgvsc: ENST00000583130.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462386
  ensembl transcript: ENST00000583268
  gene symbol: WIPF2
  hgvsc: ENST00000583268.1:c.-160C>T
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171475
  ensembl transcript: ENST00000494757
  gene symbol: WIPF2
  hgvsc: ENST00000494757.1:n.172-4101C>T
  variant of: http://identifiers.org/hgnc/30923
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15897
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-38412688-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38412688
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38412688
    reference: chr 17
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462826
  ensembl transcript: ENST00000585043
  gene symbol: WIPF2
  hgvsc: ENST00000585043.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000463869
  ensembl transcript: ENST00000582781
  gene symbol: WIPF2
  hgvsc: ENST00000582781.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000320924
  ensembl transcript: ENST00000323571
  gene symbol: WIPF2
  hgvsc: ENST00000323571.4:c.-24G>C
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462386
  ensembl transcript: ENST00000583268
  gene symbol: WIPF2
  hgvsc: ENST00000583268.1:c.-158G>C
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000377663
  ensembl transcript: ENST00000394103
  gene symbol: WIPF2
  hgvsc: ENST00000394103.3:c.-24G>C
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171475
  ensembl transcript: ENST00000494757
  gene symbol: WIPF2
  hgvsc: ENST00000494757.1:n.172-4099G>C
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462350
  ensembl transcript: ENST00000583130
  gene symbol: WIPF2
  hgvsc: ENST00000583130.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000463149
  ensembl transcript: ENST00000584296
  gene symbol: WIPF2
  hgvsc: ENST00000584296.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000439175
  ensembl transcript: ENST00000536600
  gene symbol: WIPF2
  hgvsc: ENST00000536600.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171475
  ensembl transcript: ENST00000578304
  gene symbol: WIPF2
  hgvsc: ENST00000578304.1:n.49G>C
  variant of: http://identifiers.org/hgnc/30923
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-38412690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38412690
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38412690
    reference: chr 17
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462826
  ensembl transcript: ENST00000585043
  gene symbol: WIPF2
  hgvsc: ENST00000585043.1:c.-22G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000463869
  ensembl transcript: ENST00000582781
  gene symbol: WIPF2
  hgvsc: ENST00000582781.1:c.-22G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000463149
  ensembl transcript: ENST00000584296
  gene symbol: WIPF2
  hgvsc: ENST00000584296.1:c.-22G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462350
  ensembl transcript: ENST00000583130
  gene symbol: WIPF2
  hgvsc: ENST00000583130.1:c.-22G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000377663
  ensembl transcript: ENST00000394103
  gene symbol: WIPF2
  hgvsc: ENST00000394103.3:c.-22G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000462386
  ensembl transcript: ENST00000583268
  gene symbol: WIPF2
  hgvsc: ENST00000583268.1:c.-156G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171475
  ensembl transcript: ENST00000494757
  gene symbol: WIPF2
  hgvsc: ENST00000494757.1:n.172-4097G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000320924
  ensembl transcript: ENST00000323571
  gene symbol: WIPF2
  hgvsc: ENST00000323571.4:c.-22G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171475
  ensembl protein: ENSP00000439175
  ensembl transcript: ENST00000536600
  gene symbol: WIPF2
  hgvsc: ENST00000536600.1:c.-22G>A
  variant of: http://identifiers.org/hgnc/30923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000171475
  ensembl transcript: ENST00000578304
  gene symbol: WIPF2
  hgvsc: ENST00000578304.1:n.51G>A
  variant of: http://identifiers.org/hgnc/30923
canonical: true
consequence: 5' UTR
filter: PASS
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 2968
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.71e-1

DP
type: SiteQuality
SIO_000300: 3.514711e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

FS
type: SiteQuality
SIO_000300: 8.355e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.31e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1943
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.88e-1

QD
type: SiteQuality
SIO_000300: 1.38e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.45e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 3.514413e6

FS
type: SiteQuality
SIO_000300: 2.965e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.65e0

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

GenotypeQuality
all individuals: 1682
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2976
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1839
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2345
bin: 9.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.91e-1

DP
type: SiteQuality
SIO_000300: 3.514265e6

MQRankSum
type: SiteQuality
SIO_000300: -4.32e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 1943
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.661821705426356e-4
allele num: 16512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.038e0

FS
type: SiteQuality
SIO_000300: 6.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.177e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-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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variant carriers: 0

Other
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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: 11578
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997242536866083e-5
allele num: 66728
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.002e1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.46e-1

FS
type: SiteQuality
SIO_000300: 1.756e0

GenotypeQuality
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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

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

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.98e-2

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

QD
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SIO_000300: 1.221e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.023e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.487e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
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East Asian
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allele count: 0
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allele num: 8652
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African
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allele count: 11
allele frequency: 1.058099268949596e-3
allele num: 10396
num of homozygotes: 0

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

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

Other
type: Population
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.509779e6

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.101e0

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

FS
type: SiteQuality
SIO_000300: 1.687e0

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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variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.016e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

African
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num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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
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ReadPosRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 1.903794897829674e-4
allele num: 15758
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.51285930408472e-5
allele num: 66100
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Other
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allele num: 892
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Latino
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East Asian
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allele frequency: 3.491620111731844e-4
allele num: 8592
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
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QD
type: SiteQuality
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FS
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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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BaseQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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Latino
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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MQ
type: SiteQuality
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InbreedingCoeff
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QD
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DP
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FS
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 1.278118609406953e-4
allele num: 15648
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African
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European (Non-Finnish)
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Other
type: Population
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Latino
type: Population
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East Asian
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European (Finnish)
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BaseQRankSum
type: SiteQuality
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FS
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ReadPosRankSum
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QD
type: SiteQuality
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MQ
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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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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variant carriers: 0

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

Latino
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num of homozygotes: 0

African
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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ReadPosRankSum
type: SiteQuality
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FS
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MQRankSum
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VQSLOD
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ClippingRankSum
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DP
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MQ
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InbreedingCoeff
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18148
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5293
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
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: 10394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.303580433686334e-5
allele num: 15864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66340
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 2.093193e6

VQSLOD
type: SiteQuality
SIO_000300: -3.229e-1

FS
type: SiteQuality
SIO_000300: 6.874e0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.403e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.34e-1

GenotypeQuality
all individuals: 13376
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5367
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3731
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4750
bin: 8.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506024096385542e-5
allele num: 66400
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 4.815100154083205e-4
allele num: 10384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.091e1

DP
type: SiteQuality
SIO_000300: 2.118664e6

FS
type: SiteQuality
SIO_000300: 6.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3773
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2775
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4827
bin: 8.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.15839389087326e-5
allele num: 16238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.46e-1

DP
type: SiteQuality
SIO_000300: 2.124587e6

QD
type: SiteQuality
SIO_000300: 1.448e1

FS
type: SiteQuality
SIO_000300: 1.109e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.227e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 333
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3774
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4828
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3888
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.508430765531544e-5
allele num: 66542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 2.128177e6

FS
type: SiteQuality
SIO_000300: 4.115e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.28e-1

QD
type: SiteQuality
SIO_000300: 1.226e1

GenotypeQuality
all individuals: 5494
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3778
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18259
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14271
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
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: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.089999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.326e1

DP
type: SiteQuality
SIO_000300: 2.131859e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

GenotypeQuality
all individuals: 139
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4840
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14466
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variant carriers: 0

GenotypeQuality
all individuals: 18263
bin: 9.75e1
variant carriers: 2

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: 16442
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.315e1

FS
type: SiteQuality
SIO_000300: 1.5434e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.556e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

DP
type: SiteQuality
SIO_000300: 2.135629e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.923e0

GenotypeQuality
all individuals: 3918
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4843
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001831116981359e-5
allele num: 66626
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.404e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

QD
type: SiteQuality
SIO_000300: 1.144e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

DP
type: SiteQuality
SIO_000300: 2.136244e6

VQSLOD
type: SiteQuality
SIO_000300: 4.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5510
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3919
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4845
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: -3.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.187e0

QD
type: SiteQuality
SIO_000300: 1.265e1

DP
type: SiteQuality
SIO_000300: 2.136655e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.298e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18264
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4841
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.123e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.827e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

DP
type: SiteQuality
SIO_000300: 2.137279e6

VQSLOD
type: SiteQuality
SIO_000300: -2.274e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.14e0

QD
type: SiteQuality
SIO_000300: 6.47e0

GenotypeQuality
all individuals: 18323
bin: 9.75e1
variant carriers: 81

GenotypeQuality
all individuals: 14643
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2796
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.593809441466367e-4
allele num: 11566
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 79
allele frequency: 7.593233371780085e-3
allele num: 10404
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 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: 16510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.07e0

QD
type: SiteQuality
SIO_000300: 1.349e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

DP
type: SiteQuality
SIO_000300: 2.143386e6

GenotypeQuality
all individuals: 3927
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2797
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 18287
bin: 9.75e1
variant carriers: 3

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

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

DP
type: SiteQuality
SIO_000300: 2.141105e6

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 5.449e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.5e1

GenotypeQuality
all individuals: 4856
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3930
bin: 7.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6754
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
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: 10404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.083e1

VQSLOD
type: SiteQuality
SIO_000300: -2.973e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 8.705e0

MQRankSum
type: SiteQuality
SIO_000300: -2.85e-1

DP
type: SiteQuality
SIO_000300: 2.141558e6

MQ
type: SiteQuality
SIO_000300: 5.941e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.322e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3929
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5530
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 2.139e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.971e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

VQSLOD
type: SiteQuality
SIO_000300: -6.71e-1

DP
type: SiteQuality
SIO_000300: 2.141679e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.01e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

MQ
type: SiteQuality
SIO_000300: 5.909e1

GenotypeQuality
all individuals: 3930
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 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: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.047e0

DP
type: SiteQuality
SIO_000300: 2.141864e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.62e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.01e-1

QD
type: SiteQuality
SIO_000300: 1.02e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2799
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5535
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.142045e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.366e0

FS
type: SiteQuality
SIO_000300: 3.389e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

QD
type: SiteQuality
SIO_000300: 1.178e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.52e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6751
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18289
bin: 9.75e1
variant carriers: 1

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 2.248e0

QD
type: SiteQuality
SIO_000300: 1.499e1

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.283e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.068e0

DP
type: SiteQuality
SIO_000300: 2.14213e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 75

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3776
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 73
allele frequency: 7.016532103037294e-3
allele num: 10404
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.695e0

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

DP
type: SiteQuality
SIO_000300: 2.146218e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

QD
type: SiteQuality
SIO_000300: 1.212e1

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

FS
type: SiteQuality
SIO_000300: 5.27e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.842e0

QD
type: SiteQuality
SIO_000300: 1.236e1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

DP
type: SiteQuality
SIO_000300: 2.14283e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 2.996883241428914e-4
allele num: 66736
num of homozygotes: 0

South Asian
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

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

African
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East Asian
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allele frequency: 6.933210076265311e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495324862143371e-5
allele num: 66736
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
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allele num: 11574
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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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Latino
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num of homozygotes: 0

Other
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East Asian
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allele frequency: 0.0e0
allele num: 8654
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European (Non-Finnish)
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allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.143489e6

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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MQ
type: SiteQuality
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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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bin: 9.75e1
variant carriers: 3

Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495324862143371e-5
allele num: 66736
num of homozygotes: 0

European (Finnish)
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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: 906
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FS
type: SiteQuality
SIO_000300: 7.64e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.92e-1

VQSLOD
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DP
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InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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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: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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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

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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allele count: 0
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allele num: 11576
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.003e0

BaseQRankSum
type: SiteQuality
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DP
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SIO_000300: 2.14355e6

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele 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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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
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MQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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QD
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MQ
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Finnish)
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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
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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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: 11

GenotypeQuality
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GenotypeQuality
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variant carriers: 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 frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.661821705426356e-4
allele num: 16512
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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allele num: 6610
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South Asian
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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DP
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QD
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ClippingRankSum
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BaseQRankSum
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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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variant carriers: 1

European (Finnish)
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num of homozygotes: 0

Other
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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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allele num: 66734
num of homozygotes: 0

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

East Asian
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South Asian
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allele frequency: 6.056201550387597e-5
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European (Non-Finnish)
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Other
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Latino
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African
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European (Finnish)
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ReadPosRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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MQ
type: SiteQuality
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ClippingRankSum
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VQSLOD
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MQRankSum
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FS
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele num: 8654
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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Latino
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South Asian
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African
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.65e-1

QD
type: SiteQuality
SIO_000300: 1.089e1

FS
type: SiteQuality
SIO_000300: 9.14e-1

DP
type: SiteQuality
SIO_000300: 2.143433e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.539e0

GenotypeQuality
all individuals: 3930
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.534e1

FS
type: SiteQuality
SIO_000300: 3.284e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.472e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e0

VQSLOD
type: SiteQuality
SIO_000300: 8.69e-1

DP
type: SiteQuality
SIO_000300: 2.143388e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 4847
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14645
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

African
type: Population
allele count: 18
allele frequency: 1.730103806228374e-3
allele num: 10404
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.88e-1

FS
type: SiteQuality
SIO_000300: 1.099e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.8e-2

DP
type: SiteQuality
SIO_000300: 2.143994e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.618e0

QD
type: SiteQuality
SIO_000300: 1.438e1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
all individuals: 2790
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 4.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.14306e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.124e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.014e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5494
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3780
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 18
allele frequency: 1.090116279069767e-3
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

QD
type: SiteQuality
SIO_000300: 1.382e1

FS
type: SiteQuality
SIO_000300: 5.7e-1

MQ
type: SiteQuality
SIO_000300: 6.002e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.143582e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3923
bin: 7.25e1
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: 16512
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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.113e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 5.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.142887e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.292e0

QD
type: SiteQuality
SIO_000300: 9.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.725e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18323
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 14626
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 6
allele frequency: 6.934812760055479e-4
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 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: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 9.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.84e-1

DP
type: SiteQuality
SIO_000300: 2.142887e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.292e0

FS
type: SiteQuality
SIO_000300: 1.113e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.725e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 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: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.739e0

MQ
type: SiteQuality
SIO_000300: 5.918e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.66e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.016e1

DP
type: SiteQuality
SIO_000300: 2.140116e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

VQSLOD
type: SiteQuality
SIO_000300: -2.12e-2

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.998200359928014e-5
allele num: 66680
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.193e1

FS
type: SiteQuality
SIO_000300: 6.205e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.137689e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.672e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
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: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000750187546887e-5
allele num: 66650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.99e-1

DP
type: SiteQuality
SIO_000300: 2.134054e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.564e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.994e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.157e1

VQSLOD
type: SiteQuality
SIO_000300: 4.86e-1

FS
type: SiteQuality
SIO_000300: 5.44e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6556
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Finnish)
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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: 8652
num of homozygotes: 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: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.564e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.99e-1

DP
type: SiteQuality
SIO_000300: 2.134054e6

QD
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 72
allele frequency: 4.361521686455052e-3
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 66660
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 2.457e0

DP
type: SiteQuality
SIO_000300: 2.138296e6

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 5493
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 1.707e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.879e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 2.136782e6

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3802
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 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: 16508
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

FS
type: SiteQuality
SIO_000300: 3.277e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.32e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.649999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.73e-1

DP
type: SiteQuality
SIO_000300: 2.135993e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.350378105869643e-4
allele num: 66648
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 11576
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

South Asian
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allele count: 5
allele frequency: 3.028834504482675e-4
allele num: 16508
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.381e1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.47e-2

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.13131e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.763e0

QD
type: SiteQuality
SIO_000300: 1.003e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.313743637204998e-4
allele num: 8644
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.128884e6

VQSLOD
type: SiteQuality
SIO_000300: 5.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.02e-1

FS
type: SiteQuality
SIO_000300: 6.132e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.28e-2

QD
type: SiteQuality
SIO_000300: 1.226e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 8.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

African
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allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.81e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

FS
type: SiteQuality
SIO_000300: 7.194e0

DP
type: SiteQuality
SIO_000300: 2.129023e6

MQRankSum
type: SiteQuality
SIO_000300: -1.362e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.816e0

VQSLOD
type: SiteQuality
SIO_000300: -1.117e0

QD
type: SiteQuality
SIO_000300: 1.357e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

GenotypeQuality
all individuals: 11153
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 1.478e0

QD
type: SiteQuality
SIO_000300: 1.467e1

VQSLOD
type: SiteQuality
SIO_000300: -3.335e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.089e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e0

DP
type: SiteQuality
SIO_000300: 2.129801e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

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

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

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

Latino
type: Population
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: 10388
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.095419e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

FS
type: SiteQuality
SIO_000300: 3.431e0

VQSLOD
type: SiteQuality
SIO_000300: 6.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.92e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.584e1

MQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.985e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e0

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

FS
type: SiteQuality
SIO_000300: 2.713e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 2.095629e6

QD
type: SiteQuality
SIO_000300: 1.625e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.407e0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 4.481e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.294e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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BaseQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.86e1

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4018
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31126
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8774
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2786
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2801
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.997e0

VQSLOD
type: SiteQuality
SIO_000300: -2.248e0

FS
type: SiteQuality
SIO_000300: 3.459e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.525e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

DP
type: SiteQuality
SIO_000300: 2.096569e6

MQRankSum
type: SiteQuality
SIO_000300: -2.214e0

QD
type: SiteQuality
SIO_000300: 1.001e1

GenotypeQuality
all individuals: 1110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8774
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31144
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2786
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4019
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2802
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8100
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1644
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.896e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.901e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

QD
type: SiteQuality
SIO_000300: 4.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e0

DP
type: SiteQuality
SIO_000300: 2.096737e6

MQ
type: SiteQuality
SIO_000300: 5.872e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.606e0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8772
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8099
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1644
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31139
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 10388
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.096888e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.631e0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

FS
type: SiteQuality
SIO_000300: 4.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

QD
type: SiteQuality
SIO_000300: 1.025e1