17-74473304-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473304
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473304
    reference: chr 17
allele count: 1
allele frequency: 8.949667072384908e-6
allele num: 111736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.878A>C
  hgvsp: ENSP00000466867.1:p.His293Pro
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.965A>C
  hgvsp: ENSP00000322775.3:p.His322Pro
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.953A>C
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.152A>C
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.878A>C
  hgvsp: ENSP00000374410.4:p.His293Pro
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.901A>C
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4966
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His322Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

17-74473311-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473311
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473311
    reference: chr 17
allele count: 1
allele frequency: 8.916470504315571e-6
allele num: 112152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.871A>C
  hgvsp: ENSP00000466867.1:p.Ile291Leu
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.894A>C
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.958A>C
  hgvsp: ENSP00000322775.3:p.Ile320Leu
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.871A>C
  hgvsp: ENSP00000374410.4:p.Ile291Leu
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.946A>C
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.145A>C
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23688
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
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genotype quality: GenotypeQuality
  all individuals: 739
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4992
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile320Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

17-74473314-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473314
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473314
    reference: chr 17
allele count: 1
allele frequency: 8.908685968819599e-6
allele num: 112250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.142G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.955G>A
  hgvsp: ENSP00000322775.3:p.Gly319Arg
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.891G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.868G>A
  hgvsp: ENSP00000374410.4:p.Gly290Arg
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.868G>A
  hgvsp: ENSP00000466867.1:p.Gly290Arg
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.943G>A
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24093
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 3.75e1
  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: 6.25e1
  variant carriers: 0
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: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35472
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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: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 493
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
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genotype quality: GenotypeQuality
  all individuals: 1793
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly319Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

17-74473316-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473316
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473316
    reference: chr 17
allele count: 1
allele frequency: 8.910591128615473e-6
allele num: 112226
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.953G>A
  hgvsp: ENSP00000322775.3:p.Arg318Gln
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.140G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.941G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.866G>A
  hgvsp: ENSP00000466867.1:p.Arg289Gln
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.866G>A
  hgvsp: ENSP00000374410.4:p.Arg289Gln
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.889G>A
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
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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: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
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: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35833
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg318Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

17-74473317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473317
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473317
    reference: chr 17
allele count: 1
allele frequency: 8.893632159373889e-6
allele num: 112440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.865C>T
  hgvsp: ENSP00000466867.1:p.Arg289Ter
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.888C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.952C>T
  hgvsp: ENSP00000322775.3:p.Arg318Ter
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.940C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.865C>T
  hgvsp: ENSP00000374410.4:p.Arg289Ter
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.139C>T
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6645
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg318Ter
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

17-74473329-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473329
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473329
    reference: chr 17
allele count: 95
allele frequency: 8.421537861461269e-4
allele num: 112806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.853G>A
  hgvsp: ENSP00000466867.1:p.Ala285Thr
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.127G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.876G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.940G>A
  hgvsp: ENSP00000322775.3:p.Ala314Thr
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.928G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.853G>A
  hgvsp: ENSP00000374410.4:p.Ala285Thr
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25453
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17079
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4587
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4968
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala314Thr
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

17-74473336-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473336
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473337
    reference: chr 17
allele count: 8
allele frequency: 7.131777417226809e-5
allele num: 112174
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.920dupC
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.845dupC
  hgvsp: ENSP00000374410.4:p.Leu283ThrfsTer52
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.868dupC
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.932dupC
  hgvsp: ENSP00000322775.3:p.Leu312ThrfsTer52
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.119dupC
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.845dupC
  hgvsp: ENSP00000466867.1:p.Leu283ThrfsTer52
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17155
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25483
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36385
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Leu312ThrfsTer52
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

17-74473337-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473337
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473337
    reference: chr 17
allele count: 1
allele frequency: 8.896163974094371e-6
allele num: 112408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.845C>G
  hgvsp: ENSP00000374410.4:p.Pro282Arg
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.920C>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.868C>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.119C>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.845C>G
  hgvsp: ENSP00000466867.1:p.Pro282Arg
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.932C>G
  hgvsp: ENSP00000322775.3:p.Pro311Arg
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4883
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro311Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

17-74473337-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473337
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473337
    reference: chr 17
allele count: 11
allele frequency: 9.785780371503808e-5
allele num: 112408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.932C>A
  hgvsp: ENSP00000322775.3:p.Pro311Gln
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.868C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.845C>A
  hgvsp: ENSP00000374410.4:p.Pro282Gln
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.920C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.119C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.845C>A
  hgvsp: ENSP00000466867.1:p.Pro282Gln
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17240
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25853
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4883
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro311Gln
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

17-74473353-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473353
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473353
    reference: chr 17
allele count: 1
allele frequency: 8.913768206371561e-6
allele num: 112186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.829G>A
  hgvsp: ENSP00000374410.4:p.Val277Ile
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.904G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.829G>A
  hgvsp: ENSP00000466867.1:p.Val277Ile
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.103G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.916G>A
  hgvsp: ENSP00000322775.3:p.Val306Ile
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.852G>A
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25564
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val306Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

17-74473362-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473362
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473362
    reference: chr 17
allele count: 2
allele frequency: 1.793335963559413e-5
allele num: 111524
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.907C>A
  hgvsp: ENSP00000322775.3:p.Pro303Thr
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.843C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.820C>A
  hgvsp: ENSP00000466867.1:p.Pro274Thr
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.895C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.820C>A
  hgvsp: ENSP00000374410.4:p.Pro274Thr
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.94C>A
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7803
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38344
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro303Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

17-74473369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473369
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473369
    reference: chr 17
allele count: 6
allele frequency: 5.427310225052464e-5
allele num: 110552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.813C>T
  hgvsp: ENST00000389760.4:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.900C>T
  hgvsp: ENST00000313080.4:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.813C>T
  hgvsp: ENST00000591885.1:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.836C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.87C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.888C>T
  variant of: http://identifiers.org/hgnc/20788
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23948
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17002
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
hgvs: n.836C>T
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD

17-74473370-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473370
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473370
    reference: chr 17
allele count: 1
allele frequency: 9.073586788857636e-6
allele num: 110210
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.899G>C
  hgvsp: ENSP00000322775.3:p.Ser300Thr
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.887G>C
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.812G>C
  hgvsp: ENSP00000374410.4:p.Ser271Thr
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.812G>C
  hgvsp: ENSP00000466867.1:p.Ser271Thr
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.86G>C
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.836-1G>C
  variant of: http://identifiers.org/hgnc/20788
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 7.25e1
  variant carriers: 0
hgvs: n.836-1G>C
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-74473371-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473371
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473371
    reference: chr 17
allele count: 3
allele frequency: 2.722916061574208e-5
allele num: 110176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.836-2A>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.898A>T
  hgvsp: ENSP00000322775.3:p.Ser300Cys
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.811A>T
  hgvsp: ENSP00000466867.1:p.Ser271Cys
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.811A>T
  hgvsp: ENSP00000374410.4:p.Ser271Cys
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.886A>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.85A>T
  variant of: http://identifiers.org/hgnc/20788
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16909
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
hgvs: n.836-2A>T
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: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-74473378-T-TGAGCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473378
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473383
    reference: chr 17
allele count: 1
allele frequency: 9.182905103858657e-6
allele num: 108898
alternate allele: TGAGCA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.77_78insTGCTC
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.803_804insTGCTC
  hgvsp: ENSP00000374410.4:p.Glu268AspfsTer5
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.890_891insTGCTC
  hgvsp: ENSP00000322775.3:p.Glu297AspfsTer5
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.836-10_836-9insTGCTC
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.878_879insTGCTC
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.803_804insTGCTC
  hgvsp: ENSP00000466867.1:p.Glu268AspfsTer5
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21247
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11070
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu297AspfsTer5
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

17-74473379-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473379
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473379
    reference: chr 17
allele count: 1
allele frequency: 9.208442299900549e-6
allele num: 108596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.77A>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.803A>G
  hgvsp: ENSP00000466867.1:p.Glu268Gly
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.803A>G
  hgvsp: ENSP00000374410.4:p.Glu268Gly
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.890A>G
  hgvsp: ENSP00000322775.3:p.Glu297Gly
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.878A>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.836-10A>G
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20832
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu297Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

17-74473385-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473385
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473385
    reference: chr 17
allele count: 1
allele frequency: 9.341778300917363e-6
allele num: 107046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.877-5C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.836-16C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.76-5C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.802-5C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.889-5C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.802-5C>A
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13027
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
hgvs: c.889-5C>A
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

17-74473387-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473387
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473387
    reference: chr 17
allele count: 1
allele frequency: 9.374355513058478e-6
allele num: 106674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.836-18A>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.889-7A>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.802-7A>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.877-7A>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.802-7A>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.76-7A>G
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17605
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13514
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 2.75e1
  variant carriers: 0
hgvs: c.889-7A>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-74473388-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473388
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473388
    reference: chr 17
allele count: 35
allele frequency: 3.288731864992859e-4
allele num: 106424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.877-8C>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.889-8C>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.76-8C>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.802-8C>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.836-19C>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.802-8C>G
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14905
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17182
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2891
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 9.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13833
  bin: 2.25e1
  variant carriers: 0
hgvs: c.889-8C>G
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

17-74473392-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473392
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473392
    reference: chr 17
allele count: 1
allele frequency: 9.479032380374612e-6
allele num: 105496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.802-12C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.802-12C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.76-12C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.889-12C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.877-12C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.836-23C>T
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15836
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3826
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

17-74473392-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473392
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473392
    reference: chr 17
allele count: 1
allele frequency: 9.479032380374612e-6
allele num: 105496
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.889-12C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.802-12C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.76-12C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.836-23C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.877-12C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.802-12C>A
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14870
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

17-74473402-TAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473402
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473400
    reference: chr 17
allele count: 1
allele frequency: 9.626677448545409e-6
allele num: 103878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.836-35_836-34delGT
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.76-24_76-23delGT
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.802-24_802-23delGT
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.802-24_802-23delGT
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.877-24_877-23delGT
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.889-24_889-23delGT
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12978
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16579
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: TAC
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

17-74473407-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473407
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473407
    reference: chr 17
allele count: 13
allele frequency: 1.265059068527277e-4
allele num: 102762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.877-27A>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.76-27A>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.836-38A>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.802-27A>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.889-27A>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.802-27A>G
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7848
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11076
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11206
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17646
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17092
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19342
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-74473408-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473408
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473408
    reference: chr 17
allele count: 1
allele frequency: 9.754004018649656e-6
allele num: 102522
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.76-28C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.836-39C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.877-28C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.802-28C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.802-28C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.889-28C>T
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

17-74473413-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473413
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473413
    reference: chr 17
allele count: 1
allele frequency: 9.867771857114663e-6
allele num: 101340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.802-33C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.802-33C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.889-33C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.836-44C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.877-33C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.76-33C>T
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9461
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8886
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6288
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4814
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

17-74473413-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473413
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473413
    reference: chr 17
allele count: 2
allele frequency: 1.973554371422933e-5
allele num: 101340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.802-33C>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.889-33C>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.802-33C>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.877-33C>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.76-33C>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.836-44C>G
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9078
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8886
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4814
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

17-74473430-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473430
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473430
    reference: chr 17
allele count: 2
allele frequency: 2.127614306078594e-5
allele num: 94002
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.802-50A>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.889-50A>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.877-50A>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.802-50A>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.836-61A>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.76-50A>G
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10878
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16592
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11958
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5997
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5019
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

17-74473431-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473431
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473432
    reference: chr 17
allele count: 9
allele frequency: 9.713977334052887e-5
allele num: 92650
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.76-52dupG
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.877-52dupG
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.836-63dupG
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.889-52dupG
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.802-52dupG
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.802-52dupG
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 16567
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9229
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11977
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12304
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

17-74473431-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473431
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473430
    reference: chr 17
allele count: 2
allele frequency: 2.158661629789531e-5
allele num: 92650
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.802-52delG
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.836-63delG
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.889-52delG
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.802-52delG
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.76-52delG
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.877-52delG
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9229
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11977
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5569
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4940
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3678
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5713
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: GC
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS

http://identifiers.org/exac.variant/17-74473432-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473432
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473432
    reference: chr 17
allele count: 5
allele frequency: 5.476211337947954e-5
allele num: 91304
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.889-52G>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.802-52G>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.836-63G>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.802-52G>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.76-52G>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.877-52G>T
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11937
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10906
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5803
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5229
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4904
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5567
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4588
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

17-74473695-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473695
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473695
    reference: chr 17
allele count: 49
allele frequency: 4.112946548482407e-4
allele num: 119136
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.801+44T>C
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.876+44T>C
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.835+33T>C
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.801+44T>C
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.75+44T>C
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.888+44T>C
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/17-74473698-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473698
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473698
    reference: chr 17
allele count: 10
allele frequency: 8.387572971884856e-5
allele num: 119224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.801+41G>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.876+41G>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.801+41G>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.75+41G>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.835+30G>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.888+41G>T
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3876
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22452
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 4055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

17-74473706-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473706
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473706
    reference: chr 17
allele count: 1
allele frequency: 8.34640937468701e-6
allele num: 119812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.75+33G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.888+33G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.801+33G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.876+33G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.835+22G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.801+33G>A
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3880
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4073
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP

17-74473720-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473720
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473719
    reference: chr 17
allele count: 1
allele frequency: 8.307027745472669e-6
allele num: 120380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.876+18delG
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.801+18delG
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.888+18delG
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.835+7delG
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.75+18delG
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.801+18delG
  variant of: http://identifiers.org/hgnc/20788
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9340
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14360
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3880
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
hgvs: n.835+7delG
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: TC
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

17-74473727-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473727
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473727
    reference: chr 17
allele count: 7
allele frequency: 5.804023017096994e-5
allele num: 120606
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.888+12G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.801+12G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.835+1G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.876+12G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.75+12G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.801+12G>A
  variant of: http://identifiers.org/hgnc/20788
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9597
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.25e1
  variant carriers: 0
hgvs: n.835+1G>A
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

17-74473745-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473745
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473745
    reference: chr 17
allele count: 33
allele frequency: 2.724210804385154e-4
allele num: 121136
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.882T>C
  hgvsp: ENST00000313080.4:c.882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.69T>C
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.870T>C
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.818T>C
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.795T>C
  hgvsp: ENST00000591885.1:c.795T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.795T>C
  hgvsp: ENST00000389760.4:c.795T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10100
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9952
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22448
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4093
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe294Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-74473749-AAGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473749
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473746
    reference: chr 17
allele count: 5
allele frequency: 4.12657015994586e-5
allele num: 121166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.788_790delCCT
  hgvsp: ENSP00000374410.4:p.Ser263del
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.811_813delCCT
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.788_790delCCT
  hgvsp: ENSP00000466867.1:p.Ser263del
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.863_865delCCT
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.62_64delCCT
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.875_877delCCT
  hgvsp: ENSP00000322775.3:p.Ser292del
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 15844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3873
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22420
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser292del
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: AAGG
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

17-74473752-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473752
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473752
    reference: chr 17
allele count: 886
allele frequency: 7.311920245601294e-3
allele num: 121172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.811C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.788C>T
  hgvsp: ENSP00000374410.4:p.Ser263Phe
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.788C>T
  hgvsp: ENSP00000466867.1:p.Ser263Phe
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.875C>T
  hgvsp: ENSP00000322775.3:p.Ser292Phe
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.863C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.62C>T
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10111
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9999
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 9.75e1
  variant carriers: 821
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5924
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser292Phe
num of homozygotes: 32
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

17-74473755-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473755
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473755
    reference: chr 17
allele count: 2
allele frequency: 1.650219479190732e-5
allele num: 121196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.59C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.860C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.785C>A
  hgvsp: ENSP00000374410.4:p.Ser262Tyr
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.785C>A
  hgvsp: ENSP00000466867.1:p.Ser262Tyr
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.872C>A
  hgvsp: ENSP00000322775.3:p.Ser291Tyr
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.808C>A
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21913
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser291Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/17-74473756-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473756
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473756
    reference: chr 17
allele count: 2
allele frequency: 1.650273945474949e-5
allele num: 121192
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.871T>G
  hgvsp: ENSP00000322775.3:p.Ser291Ala
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.807T>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.784T>G
  hgvsp: ENSP00000374410.4:p.Ser262Ala
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.58T>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.859T>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.784T>G
  hgvsp: ENSP00000466867.1:p.Ser262Ala
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3960
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21913
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser291Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

17-74473763-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473763
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473763
    reference: chr 17
allele count: 2
allele frequency: 1.650301179965344e-5
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.852G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.864G>A
  hgvsp: ENST00000313080.4:c.864G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.777G>A
  hgvsp: ENST00000389760.4:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.777G>A
  hgvsp: ENST00000591885.1:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.800G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.51G>A
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3960
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr288Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

17-74473764-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473764
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473764
    reference: chr 17
allele count: 4
allele frequency: 3.300275573010346e-5
allele num: 121202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.50C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.851C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.776C>T
  hgvsp: ENSP00000466867.1:p.Thr259Met
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.776C>T
  hgvsp: ENSP00000374410.4:p.Thr259Met
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.863C>T
  hgvsp: ENSP00000322775.3:p.Thr288Met
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.799C>T
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr288Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-74473770-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473770
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473770
    reference: chr 17
allele count: 2
allele frequency: 1.650382888830209e-5
allele num: 121184
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.857C>A
  hgvsp: ENSP00000322775.3:p.Ala286Glu
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.770C>A
  hgvsp: ENSP00000374410.4:p.Ala257Glu
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.793C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.770C>A
  hgvsp: ENSP00000466867.1:p.Ala257Glu
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.44C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.845C>A
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala286Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

17-74473777-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473777
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473777
    reference: chr 17
allele count: 8
allele frequency: 6.602621240632531e-5
allele num: 121164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.838G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.37G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.763G>A
  hgvsp: ENSP00000374410.4:p.Asp255Asn
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.763G>A
  hgvsp: ENSP00000466867.1:p.Asp255Asn
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.786G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.850G>A
  hgvsp: ENSP00000322775.3:p.Asp284Asn
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5995
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21908
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3631
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp284Asn
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-74473778-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473778
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473778
    reference: chr 17
allele count: 1
allele frequency: 8.253821519363466e-6
allele num: 121156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.762C>T
  hgvsp: ENST00000389760.4:c.762C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.837C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.785C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.36C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.762C>T
  hgvsp: ENST00000591885.1:c.762C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.849C>T
  hgvsp: ENST00000313080.4:c.849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5994
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val283Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-74473778-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473778
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473778
    reference: chr 17
allele count: 1
allele frequency: 8.253821519363466e-6
allele num: 121156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.837C>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.785C>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.762C>G
  hgvsp: ENST00000591885.1:c.762C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.849C>G
  hgvsp: ENST00000313080.4:c.849C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.762C>G
  hgvsp: ENST00000389760.4:c.762C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.36C>G
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3631
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15973
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val283Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-74473781-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473781
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473781
    reference: chr 17
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.834G>C
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.759G>C
  hgvsp: ENST00000591885.1:c.759G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.33G>C
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.782G>C
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.846G>C
  hgvsp: ENST00000313080.4:c.846G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.759G>C
  hgvsp: ENST00000389760.4:c.759G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15980
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5995
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val282Val
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-74473803-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473803
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473803
    reference: chr 17
allele count: 26
allele frequency: 2.148866885961287e-4
allele num: 120994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.812C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.11C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.824C>T
  hgvsp: ENSP00000322775.3:p.Pro275Leu
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.760C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.737C>T
  hgvsp: ENSP00000466867.1:p.Pro246Leu
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.737C>T
  hgvsp: ENSP00000374410.4:p.Pro246Leu
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7355
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15835
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro275Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-74473805-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473805
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473805
    reference: chr 17
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.810C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000590168
  gene symbol: RHBDF2
  hgvsc: ENST00000590168.1:n.9C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.735C>T
  hgvsp: ENST00000591885.1:c.735C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.822C>T
  hgvsp: ENST00000313080.4:c.822C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.758C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.735C>T
  hgvsp: ENST00000389760.4:c.735C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3628
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe274Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-74473818-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473818
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473818
    reference: chr 17
allele count: 3
allele frequency: 2.48554242820925e-5
allele num: 120698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.722G>A
  hgvsp: ENSP00000374410.4:p.Arg241His
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.745G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.722G>A
  hgvsp: ENSP00000466867.1:p.Arg241His
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.797G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.809G>A
  hgvsp: ENSP00000322775.3:p.Arg270His
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3938
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21880
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15548
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5917
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg270His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

17-74473819-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473819
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473819
    reference: chr 17
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.721C>T
  hgvsp: ENSP00000374410.4:p.Arg241Cys
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.808C>T
  hgvsp: ENSP00000322775.3:p.Arg270Cys
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.744C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.721C>T
  hgvsp: ENSP00000466867.1:p.Arg241Cys
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.796C>T
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9903
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg270Cys
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

17-74473820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473820
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473820
    reference: chr 17
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.720G>A
  hgvsp: ENST00000591885.1:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.807G>A
  hgvsp: ENST00000313080.4:c.807G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.795G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.720G>A
  hgvsp: ENST00000389760.4:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.743G>A
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5898
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4131
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys269Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

17-74473821-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473821
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473821
    reference: chr 17
allele count: 1
allele frequency: 8.28953694646617e-6
allele num: 120634
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.794A>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.719A>G
  hgvsp: ENSP00000466867.1:p.Lys240Arg
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.742A>G
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.806A>G
  hgvsp: ENSP00000322775.3:p.Lys269Arg
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.719A>G
  hgvsp: ENSP00000374410.4:p.Lys240Arg
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3934
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21877
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys269Arg
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

17-74473827-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473827
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473827
    reference: chr 17
allele count: 1
allele frequency: 8.30592378484335e-6
allele num: 120396
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.800T>C
  hgvsp: ENSP00000322775.3:p.Val267Ala
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.713T>C
  hgvsp: ENSP00000374410.4:p.Val238Ala
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.713T>C
  hgvsp: ENSP00000466867.1:p.Val238Ala
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.736T>C
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.788T>C
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9790
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4102
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val267Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-74473830-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473830
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473830
    reference: chr 17
allele count: 1
allele frequency: 8.309098462816784e-6
allele num: 120350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.710G>T
  hgvsp: ENSP00000374410.4:p.Arg237Leu
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.710G>T
  hgvsp: ENSP00000466867.1:p.Arg237Leu
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.797G>T
  hgvsp: ENSP00000322775.3:p.Arg266Leu
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.785G>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.733G>T
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21868
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5794
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg266Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

17-74473830-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473830
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473830
    reference: chr 17
allele count: 2
allele frequency: 1.661819692563357e-5
allele num: 120350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.710G>A
  hgvsp: ENSP00000466867.1:p.Arg237Gln
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.785G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.797G>A
  hgvsp: ENSP00000322775.3:p.Arg266Gln
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.710G>A
  hgvsp: ENSP00000374410.4:p.Arg237Gln
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.733G>A
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21868
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5794
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg266Gln
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

17-74473831-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473831
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473831
    reference: chr 17
allele count: 2
allele frequency: 1.66237220513673e-5
allele num: 120310
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.796C>T
  hgvsp: ENSP00000322775.3:p.Arg266Trp
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.732C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.709C>T
  hgvsp: ENSP00000374410.4:p.Arg237Trp
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.784C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.709C>T
  hgvsp: ENSP00000466867.1:p.Arg237Trp
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21866
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg266Trp
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-74473835-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473835
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473835
    reference: chr 17
allele count: 1
allele frequency: 8.32126749546491e-6
allele num: 120174
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.792G>A
  hgvsp: ENST00000313080.4:c.792G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.705G>A
  hgvsp: ENST00000591885.1:c.705G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.705G>A
  hgvsp: ENST00000389760.4:c.705G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.728G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.780G>A
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21863
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg264Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD

17-74473836-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473836
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473836
    reference: chr 17
allele count: 10
allele frequency: 8.324176738920521e-5
allele num: 120132
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.791G>A
  hgvsp: ENSP00000322775.3:p.Arg264Gln
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.704G>A
  hgvsp: ENSP00000466867.1:p.Arg235Gln
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.704G>A
  hgvsp: ENSP00000374410.4:p.Arg235Gln
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.779G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.727G>A
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9969
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4079
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5725
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg264Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

17-74473837-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473837
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473837
    reference: chr 17
allele count: 7
allele frequency: 5.830321000816245e-5
allele num: 120062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.703C>T
  hgvsp: ENSP00000466867.1:p.Arg235Trp
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.703C>T
  hgvsp: ENSP00000374410.4:p.Arg235Trp
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.790C>T
  hgvsp: ENSP00000322775.3:p.Arg264Trp
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.726C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.778C>T
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8450
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5705
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4070
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg264Trp
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-74473843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473843
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473843
    reference: chr 17
allele count: 1
allele frequency: 8.343484572897024e-6
allele num: 119854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.772G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.697G>A
  hgvsp: ENSP00000374410.4:p.Gly233Arg
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.720G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.784G>A
  hgvsp: ENSP00000322775.3:p.Gly262Arg
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.697G>A
  hgvsp: ENSP00000466867.1:p.Gly233Arg
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3915
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21853
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly262Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-74473844-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473844
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473844
    reference: chr 17
allele count: 4
allele frequency: 3.33850802076552e-5
allele num: 119814
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.783C>T
  hgvsp: ENST00000313080.4:c.783C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.719C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.696C>T
  hgvsp: ENST00000389760.4:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.696C>T
  hgvsp: ENST00000591885.1:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.771C>T
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4057
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr261Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-74473848-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473848
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473848
    reference: chr 17
allele count: 1
allele frequency: 8.359246999030327e-6
allele num: 119628
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.779C>T
  hgvsp: ENSP00000322775.3:p.Ala260Val
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.715C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.767C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.692C>T
  hgvsp: ENSP00000374410.4:p.Ala231Val
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.692C>T
  hgvsp: ENSP00000466867.1:p.Ala231Val
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21850
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala260Val
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-74473849-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473849
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473849
    reference: chr 17
allele count: 12
allele frequency: 1.004301759201915e-4
allele num: 119486
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.778G>A
  hgvsp: ENSP00000322775.3:p.Ala260Thr
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.691G>A
  hgvsp: ENSP00000374410.4:p.Ala231Thr
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.714G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.766G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.691G>A
  hgvsp: ENSP00000466867.1:p.Ala231Thr
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8413
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4028
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala260Thr
num of homozygotes: 1
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

17-74473856-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473856
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473856
    reference: chr 17
allele count: 1
allele frequency: 8.389543273264204e-6
allele num: 119196
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.771G>A
  hgvsp: ENST00000313080.4:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.759G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.707G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.684G>A
  hgvsp: ENST00000389760.4:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.684G>A
  hgvsp: ENST00000591885.1:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14066
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val257Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

17-74473859-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473859
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473859
    reference: chr 17
allele count: 221
allele frequency: 1.855209697458111e-3
allele num: 119124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.704G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.681G>A
  hgvsp: ENST00000591885.1:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.681G>A
  hgvsp: ENST00000389760.4:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.768G>A
  hgvsp: ENST00000313080.4:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.756G>A
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8358
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9077
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 7297
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 9586
  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3898
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3616
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser256Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-74473860-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473860
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473860
    reference: chr 17
allele count: 4
allele frequency: 3.362135628551256e-5
allele num: 118972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.680C>T
  hgvsp: ENSP00000374410.4:p.Ser227Leu
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.767C>T
  hgvsp: ENSP00000322775.3:p.Ser256Leu
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.755C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.680C>T
  hgvsp: ENSP00000466867.1:p.Ser227Leu
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.703C>T
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13907
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5433
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4017
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser256Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ

17-74473863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473863
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473863
    reference: chr 17
allele count: 3
allele frequency: 2.524275112330242e-5
allele num: 118846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.677G>A
  hgvsp: ENSP00000374410.4:p.Arg226His
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.677G>A
  hgvsp: ENSP00000466867.1:p.Arg226His
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.764G>A
  hgvsp: ENSP00000322775.3:p.Arg255His
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.752G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.700G>A
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8964
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5393
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3915
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21733
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg255His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

17-74473864-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473864
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473864
    reference: chr 17
allele count: 2
allele frequency: 1.683473342199626e-5
allele num: 118802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.699C>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.763C>T
  hgvsp: ENSP00000322775.3:p.Arg255Cys
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.676C>T
  hgvsp: ENSP00000374410.4:p.Arg226Cys
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.676C>T
  hgvsp: ENSP00000466867.1:p.Arg226Cys
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.751C>T
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4004
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg255Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

17-74473864-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473864
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473864
    reference: chr 17
allele count: 1
allele frequency: 8.417366710998132e-6
allele num: 118802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.699C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.676C>A
  hgvsp: ENSP00000374410.4:p.Arg226Ser
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.751C>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.676C>A
  hgvsp: ENSP00000466867.1:p.Arg226Ser
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.763C>A
  hgvsp: ENSP00000322775.3:p.Arg255Ser
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4004
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg255Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-74473866-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473866
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473866
    reference: chr 17
allele count: 1
allele frequency: 8.423322495325057e-6
allele num: 118718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.749G>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.697G>T
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.674G>T
  hgvsp: ENSP00000466867.1:p.Gly225Val
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.761G>T
  hgvsp: ENSP00000322775.3:p.Gly254Val
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.674G>T
  hgvsp: ENSP00000374410.4:p.Gly225Val
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3999
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly254Val
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

17-74473867-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473867
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473867
    reference: chr 17
allele count: 3
allele frequency: 2.52784846391075e-5
allele num: 118678
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.760G>A
  hgvsp: ENSP00000322775.3:p.Gly254Arg
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.673G>A
  hgvsp: ENSP00000466867.1:p.Gly225Arg
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.673G>A
  hgvsp: ENSP00000374410.4:p.Gly225Arg
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.748G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.696G>A
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9462
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21729
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Gly254Arg
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

17-74473875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74473875
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74473875
    reference: chr 17
allele count: 6
allele frequency: 5.074081591231987e-5
allele num: 118248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000374410
  ensembl transcript: ENST00000389760
  gene symbol: RHBDF2
  hgvsc: ENST00000389760.4:c.673-8G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000466867
  ensembl transcript: ENST00000591885
  gene symbol: RHBDF2
  hgvsc: ENST00000591885.1:c.673-8G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000589582
  gene symbol: RHBDF2
  hgvsc: ENST00000589582.1:n.696-8G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl protein: ENSP00000322775
  ensembl transcript: ENST00000313080
  gene symbol: RHBDF2
  hgvsc: ENST00000313080.4:c.760-8G>A
  variant of: http://identifiers.org/hgnc/20788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129667
  ensembl transcript: ENST00000587640
  gene symbol: RHBDF2
  hgvsc: ENST00000587640.1:n.748-8G>A
  variant of: http://identifiers.org/hgnc/20788
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5265
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3976
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3893
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21720
  bin: 9.75e1
  variant carriers: 5
hgvs: c.760-8G>A
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C

GenotypeQuality
all individuals: 1943
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1465
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 546
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1500
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.068832834544677e-4
allele num: 9356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15316
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.744e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.06e-1

DP
type: SiteQuality
SIO_000300: 1.366796e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 3.7e0

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

GenotypeQuality
all individuals: 6966
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 690
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34792
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.604003592968048e-5
allele num: 62344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

FS
type: SiteQuality
SIO_000300: 9.327999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -4.44e-1

QD
type: SiteQuality
SIO_000300: 8.109999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.016e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.375008e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 343
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variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.704968944099378e-5
allele num: 10304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5976
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15282
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

QD
type: SiteQuality
SIO_000300: 1.719e1

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.373e0

DP
type: SiteQuality
SIO_000300: 1.38111e6

GenotypeQuality
all individuals: 716
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.602410024677114e-5
allele num: 62406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.43e0

FS
type: SiteQuality
SIO_000300: 2.235e0

MQ
type: SiteQuality
SIO_000300: 5.864e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.299e0

DP
type: SiteQuality
SIO_000300: 1.385586e6

GenotypeQuality
all individuals: 981
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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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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 5024
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GenotypeQuality
all individuals: 342
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8080
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15246
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5994
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.484e0

VQSLOD
type: SiteQuality
SIO_000300: -1.965e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.156e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

DP
type: SiteQuality
SIO_000300: 1.386164e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 5.83e0

GenotypeQuality
all individuals: 333
bin: 9.25e1
variant carriers: 2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1051
bin: 9.75e1
variant carriers: 88

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 550
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variant carriers: 0

GenotypeQuality
all individuals: 37309
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variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 7.25e1
variant carriers: 1

Latino
type: Population
allele count: 8
allele frequency: 7.679017085813016e-4
allele num: 10418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.485148514851485e-3
allele num: 6060
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.108370229812355e-4
allele num: 9486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 60
allele frequency: 9.565106491518938e-4
allele num: 62728
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 1.051248357424441e-3
allele num: 15220
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

DP
type: SiteQuality
SIO_000300: 1.398439e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

GenotypeQuality
all individuals: 267
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 322
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GenotypeQuality
all individuals: 4766
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GenotypeQuality
all individuals: 1213
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.111932418162619e-4
allele num: 9470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15038
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.611071954892035e-5
allele num: 62428
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.404346e6

QD
type: SiteQuality
SIO_000300: 4.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.16e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 807
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GenotypeQuality
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GenotypeQuality
all individuals: 976
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GenotypeQuality
all individuals: 1423
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 37816
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GenotypeQuality
all individuals: 365
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.599744040953447e-5
allele num: 62510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
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QD
type: SiteQuality
SIO_000300: 1.039e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

DP
type: SiteQuality
SIO_000300: 1.405021e6

FS
type: SiteQuality
SIO_000300: 2.486e0

VQSLOD
type: SiteQuality
SIO_000300: 9.68e-1

MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 145
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 318
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GenotypeQuality
all individuals: 807
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GenotypeQuality
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GenotypeQuality
all individuals: 793
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.759718445048792e-4
allele num: 62510
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.486e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 9.68e-1

QD
type: SiteQuality
SIO_000300: 1.039e1

DP
type: SiteQuality
SIO_000300: 1.405021e6

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 313
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GenotypeQuality
all individuals: 321
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6070
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 14910
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.597750367482585e-5
allele num: 62588
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.333e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.63e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1191
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 313
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GenotypeQuality
all individuals: 1346
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.210582078530838e-5
allele num: 62294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.379918e6

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.707e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.022e1

BaseQRankSum
type: SiteQuality
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VQSLOD
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SIO_000300: 1.27e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 316
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GenotypeQuality
all individuals: 1143
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GenotypeQuality
all individuals: 1301
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GenotypeQuality
all individuals: 347
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GenotypeQuality
all individuals: 566
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.184713375796178e-4
allele num: 9420
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.006012024048096e-4
allele num: 9980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5980
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14624
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MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

DP
type: SiteQuality
SIO_000300: 1.357699e6

QD
type: SiteQuality
SIO_000300: 7.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

VQSLOD
type: SiteQuality
SIO_000300: -1.24e-2

GenotypeQuality
all individuals: 4468
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1532
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 653
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5954
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61694
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.854949273375377e-5
allele num: 14588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9386
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.35027e6

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.132e0

QD
type: SiteQuality
SIO_000300: 2.561e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

GenotypeQuality
all individuals: 655
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36384
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4453
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14566
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.807106598984771e-4
allele num: 7880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.831e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.27e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 1.350014e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.04e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

GenotypeQuality
all individuals: 307
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 314
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5888
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.636929120969062e-5
allele num: 61090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7810
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14374
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

FS
type: SiteQuality
SIO_000300: 5.398e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.422e0

DP
type: SiteQuality
SIO_000300: 1.315175e6

QD
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: -1.683e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQ
type: SiteQuality
SIO_000300: 5.588e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: -1.354e0

GenotypeQuality
all individuals: 130
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 191
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.640581422055977e-5
allele num: 60954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14328
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.27e0

MQ
type: SiteQuality
SIO_000300: 5.567e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.91e0

DP
type: SiteQuality
SIO_000300: 1.309526e6

FS
type: SiteQuality
SIO_000300: 5.398e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.422e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: -1.422e0

GenotypeQuality
all individuals: 385
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4092
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.660743348722888e-5
allele num: 60214
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQ
type: SiteQuality
SIO_000300: 5.934e1

MQRankSum
type: SiteQuality
SIO_000300: 8.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.715e-1

DP
type: SiteQuality
SIO_000300: 1.267088e6

QD
type: SiteQuality
SIO_000300: 8.09e0

GenotypeQuality
all individuals: 2789
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28671
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
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variant carriers: 0

GenotypeQuality
all individuals: 620
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variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.665556295802798e-5
allele num: 60040
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.191e0

QD
type: SiteQuality
SIO_000300: 8.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

DP
type: SiteQuality
SIO_000300: 1.254987e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.671e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.173e0

GenotypeQuality
all individuals: 305
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 3.250975292587776e-4
allele num: 9228
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

African
type: Population
allele count: 32
allele frequency: 3.52112676056338e-3
allele num: 9088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59922
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

FS
type: SiteQuality
SIO_000300: 5.679999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.938e0

DP
type: SiteQuality
SIO_000300: 1.248547e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.278e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

GenotypeQuality
all individuals: 1558
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14870
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
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variant carriers: 0

GenotypeQuality
all individuals: 3125
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.111358079573238e-4
allele num: 8998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13866
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.164e0

QD
type: SiteQuality
SIO_000300: 4.39e0

VQSLOD
type: SiteQuality
SIO_000300: -2.028e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.905e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 1.219995e6

GenotypeQuality
all individuals: 1001
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3826
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59518
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.101806963420009e-4
allele num: 9076
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8998
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.219995e6

VQSLOD
type: SiteQuality
SIO_000300: -2.028e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.905e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

QD
type: SiteQuality
SIO_000300: 4.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.164e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeQuality
all individuals: 1053
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 968
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3304
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.702533369654045e-5
allele num: 58736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13600
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.562e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.158959e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

QD
type: SiteQuality
SIO_000300: 2.348e1

GenotypeQuality
all individuals: 149
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4346
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.060638873849486e-4
allele num: 7388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.433948010027128e-5
allele num: 58242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.373626373626374e-3
allele num: 728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8804
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 5.204460966542751e-4
allele num: 13450
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.123353e6

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

FS
type: SiteQuality
SIO_000300: 6.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 1.131e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

GenotypeQuality
all individuals: 496
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5430
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2870
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18777
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58138
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.35685210312076e-4
allele num: 7370
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.181e0

FS
type: SiteQuality
SIO_000300: 1.805e0

VQSLOD
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

DP
type: SiteQuality
SIO_000300: 1.116557e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.626e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.245e1

GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15666
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2884
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57632
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.37438152831226e-4
allele num: 7276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13186
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.95e-1

FS
type: SiteQuality
SIO_000300: 2.681e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

QD
type: SiteQuality
SIO_000300: 1.005e1

DP
type: SiteQuality
SIO_000300: 1.081726e6

GenotypeQuality
all individuals: 6288
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3705
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2884
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.30361667818475e-4
allele num: 8682
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13186
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.95e-1

FS
type: SiteQuality
SIO_000300: 2.681e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

DP
type: SiteQuality
SIO_000300: 1.081726e6

QD
type: SiteQuality
SIO_000300: 1.005e1

GenotypeQuality
all individuals: 12737
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3645
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4030
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5590
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2124
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5214
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.465483234714004e-4
allele num: 8112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54274
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

FS
type: SiteQuality
SIO_000300: 7.669e0

VQSLOD
type: SiteQuality
SIO_000300: -1.571e0

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

DP
type: SiteQuality
SIO_000300: 1.013192e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.876e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

QD
type: SiteQuality
SIO_000300: 9.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.63e-1

GenotypeQuality
all individuals: 2392
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2075
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5569
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3678
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5713
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4940
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.307140723035554e-4
allele num: 53552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6912
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.486325211337643e-4
allele num: 8044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11682
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 3.29e0

VQSLOD
type: SiteQuality
SIO_000300: 4.98e-1

FS
type: SiteQuality
SIO_000300: 1.363e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

DP
type: SiteQuality
SIO_000300: 1.013267e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.28e-1

GenotypeQuality
all individuals: 4245
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2566
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 878
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5168
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.893518518518518e-4
allele num: 6912
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11682
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.28e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 3.29e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

DP
type: SiteQuality
SIO_000300: 1.013267e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.98e-1

FS
type: SiteQuality
SIO_000300: 1.363e0

GenotypeQuality
all individuals: 586
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3015
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7186
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1208
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52874
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 6.297229219143577e-4
allele num: 7940
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5122
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.813e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

DP
type: SiteQuality
SIO_000300: 1.014054e6

VQSLOD
type: SiteQuality
SIO_000300: 8.179999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

GenotypeQuality
all individuals: 22489
bin: 9.75e1
variant carriers: 49

GenotypeQuality
all individuals: 549
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variant carriers: 0

GenotypeQuality
all individuals: 3544
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2079
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
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variant carriers: 1

GenotypeQuality
all individuals: 698
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4043
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
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: 10368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15012
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.596053997923157e-4
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 45
allele frequency: 6.810958074769184e-4
allele num: 66070
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.808e0

QD
type: SiteQuality
SIO_000300: 1.11e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 2.482919e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 960
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5503
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
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variant carriers: 0

GenotypeQuality
all individuals: 3548
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2567
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 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: 15094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.513546238837597e-4
allele num: 66070
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.819e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 2.481594e6

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.206e0

QD
type: SiteQuality
SIO_000300: 1.202e1

GenotypeQuality
all individuals: 22443
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 646
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variant carriers: 0

GenotypeQuality
all individuals: 13026
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GenotypeQuality
all individuals: 273
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variant carriers: 0

GenotypeQuality
all individuals: 2588
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5624
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.434178355424013e-5
allele num: 15542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
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: 892
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.838e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.337e1

MQ
type: SiteQuality
SIO_000300: 5.904e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 1.314e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.43e-1

DP
type: SiteQuality
SIO_000300: 2.489338e6

GenotypeQuality
all individuals: 2598
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5790
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 356
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22444
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4087
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3552
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507204437209863e-5
allele num: 66348
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15936
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.731e0

QD
type: SiteQuality
SIO_000300: 1.326e1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 9.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.85e-1

DP
type: SiteQuality
SIO_000300: 2.504788e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.551e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14891
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3883
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4098
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22443
bin: 9.75e1
variant carriers: 7

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66394
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.739842095128057e-4
allele num: 10386
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.056e0

QD
type: SiteQuality
SIO_000300: 1.188e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.51153e6

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2640
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15773
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5918
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3869
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 22
allele frequency: 1.335761991499696e-3
allele num: 16470
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: 6
allele frequency: 9.014152218983804e-5
allele num: 66562
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.323763403666552e-4
allele num: 11564
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e0

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.521581e6

QD
type: SiteQuality
SIO_000300: 1.428e1

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

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

GenotypeQuality
all individuals: 2645
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4101
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5922
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.25e1
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: 3
allele frequency: 3.471418653089562e-4
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212709192335678e-4
allele num: 16492
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.832e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

DP
type: SiteQuality
SIO_000300: 2.519081e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.109e0

MQRankSum
type: SiteQuality
SIO_000300: -1.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

MQ
type: SiteQuality
SIO_000300: 5.671e1

GenotypeQuality
all individuals: 22426
bin: 9.75e1
variant carriers: 854

GenotypeQuality
all individuals: 3548
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4100
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2645
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2080
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3875
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 862
allele frequency: 7.455457533298737e-2
allele num: 11562
num of homozygotes: 32

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

Other
type: Population
allele count: 3
allele frequency: 3.333333333333334e-3
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.032140691328078e-4
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.011715229798738e-5
allele num: 66580
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: 10
allele frequency: 1.157943492357573e-3
allele num: 8636
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.524763e6

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.46e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

QD
type: SiteQuality
SIO_000300: 1.449e1

FS
type: SiteQuality
SIO_000300: 5.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.454e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

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

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

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

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3631
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3960
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6009
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4168
bin: 7.75e1
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: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003634397621121e-5
allele num: 66586
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.084e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

DP
type: SiteQuality
SIO_000300: 2.414177e6

FS
type: SiteQuality
SIO_000300: 1.773e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.636e0

QD
type: SiteQuality
SIO_000300: 1.948e1

GenotypeQuality
all individuals: 3631
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6010
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2695
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 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: 11564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003724618526973e-5
allele num: 66584
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.773e0

QD
type: SiteQuality
SIO_000300: 1.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.906e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: -1.441e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 2.414129e6

GenotypeQuality
all individuals: 15971
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21913
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3631
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4170
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2694
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 900
num of homozygotes: 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: 66574
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.414114e6

MQ
type: SiteQuality
SIO_000300: 5.897e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

FS
type: SiteQuality
SIO_000300: 2.279e0

QD
type: SiteQuality
SIO_000300: 1.126e1

VQSLOD
type: SiteQuality
SIO_000300: -2.445e-1

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2119
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6006
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4171
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21911
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3958
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15980
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.62962962962963e-4
allele num: 8640
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 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: 66584
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.763e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.763e0

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

QD
type: SiteQuality
SIO_000300: 1.438e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

DP
type: SiteQuality
SIO_000300: 2.413987e6

GenotypeQuality
all individuals: 3955
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 141
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3632
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21909
bin: 9.75e1
variant carriers: 2

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: 900
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
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: 66578
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.413439e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.54e-1

QD
type: SiteQuality
SIO_000300: 1.049e1

FS
type: SiteQuality
SIO_000300: 4.763e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.584e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2685
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15966
bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.008712633318311e-5
allele num: 66570
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: 4
allele frequency: 2.423361201987156e-4
allele num: 16506
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 900
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MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

MQ
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SIO_000300: 5.969e1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 3.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-2

DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
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East Asian
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allele frequency: 0.0e0
allele num: 8636
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.69e-1

DP
type: SiteQuality
SIO_000300: 2.412228e6

FS
type: SiteQuality
SIO_000300: 5.761e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.83e-1

QD
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10372
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.502268425322237e-5
allele num: 66566
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
type: SiteQuality
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MQ
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ClippingRankSum
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 900
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African
type: Population
allele count: 0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8634
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -3.59e-1

VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 26

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66468
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Latino
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allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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East Asian
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allele frequency: 0.0e0
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African
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South Asian
type: Population
allele count: 25
allele frequency: 1.515518913676043e-3
allele num: 16496
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Other
type: Population
allele count: 0
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allele num: 900
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VQSLOD
type: SiteQuality
SIO_000300: -1.703e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.31e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504936190705514e-5
allele num: 66448
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European (Finnish)
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allele count: 0
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allele num: 6610
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South Asian
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
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African
type: Population
allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

FS
type: SiteQuality
SIO_000300: 4.902e0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.406841e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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East Asian
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African
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Latino
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South Asian
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allele count: 2
allele frequency: 1.213297743266198e-4
allele num: 16484
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 898
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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African
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allele frequency: 9.712509712509713e-5
allele num: 10296
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66270
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European (Finnish)
type: Population
allele count: 0
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allele num: 6608
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FS
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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MQ
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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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele frequency: 1.509753004408479e-5
allele num: 66236
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African
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Latino
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East Asian
type: Population
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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VQSLOD
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
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Latino
type: Population
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African
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South Asian
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European (Non-Finnish)
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allele frequency: 1.509798592867711e-5
allele num: 66234
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East Asian
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European (Finnish)
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InbreedingCoeff
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BaseQRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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allele frequency: 1.165772907437631e-4
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Latino
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Other
type: Population
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South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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DP
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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SIO_000300: -2.157e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
all individuals: 139
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513867021920794e-5
allele num: 66056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.797e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.029e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

QD
type: SiteQuality
SIO_000300: 1.189e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 2.392971e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2109
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513867021920794e-5
allele num: 66056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.189e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 4.797e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.029e0

DP
type: SiteQuality
SIO_000300: 2.392971e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5794
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variant carriers: 0

GenotypeQuality
all individuals: 15290
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.029201502483945e-5
allele num: 66024
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.87e-1

DP
type: SiteQuality
SIO_000300: 2.392159e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.409e1

FS
type: SiteQuality
SIO_000300: 1.926e0

VQSLOD
type: SiteQuality
SIO_000300: 8.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.46e-1

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
all individuals: 4080
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variant carriers: 0

GenotypeQuality
all individuals: 3923
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516438189979376e-5
allele num: 65944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
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: 8564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

DP
type: SiteQuality
SIO_000300: 2.387319e6

FS
type: SiteQuality
SIO_000300: 1.888e0

QD
type: SiteQuality
SIO_000300: 1.173e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65916
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 7.860090391039497e-4
allele num: 10178
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.336448598130841e-4
allele num: 8560
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

QD
type: SiteQuality
SIO_000300: 1.221e1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

FS
type: SiteQuality
SIO_000300: 1.914e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.38652e6

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

GenotypeQuality
all individuals: 3620
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 21857
bin: 9.75e1
variant carriers: 7

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

East Asian
type: Population
allele count: 3
allele frequency: 3.508771929824561e-4
allele num: 8550
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65886
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.95217476874631e-4
allele num: 10162
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.3847e6

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.964e0

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.145e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 61
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GenotypeQuality
all individuals: 3621
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variant carriers: 0

GenotypeQuality
all individuals: 4062
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variant carriers: 0

GenotypeQuality
all individuals: 2103
bin: 8.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65752
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.79e-1

DP
type: SiteQuality
SIO_000300: 2.379444e6

MQ
type: SiteQuality
SIO_000300: 6.013e1

FS
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: 8.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.174e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3915
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.975894092076665e-4
allele num: 10122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521467912241731e-5
allele num: 65726
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.486e1

FS
type: SiteQuality
SIO_000300: 5.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 2.379209e6

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 259
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GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 9.908838684106223e-5
allele num: 10092
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65618
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.618e0

VQSLOD
type: SiteQuality
SIO_000300: -8.62e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

DP
type: SiteQuality
SIO_000300: 2.374915e6

QD
type: SiteQuality
SIO_000300: 1.28e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 14451
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 136
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GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65532
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.309051041539773e-4
allele num: 16418
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.976e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.370875e6

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.217e1

GenotypeQuality
all individuals: 340
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
all individuals: 5457
bin: 6.75e1
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GenotypeQuality
all individuals: 3902
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529987760097919e-5
allele num: 65360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.68e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.89e-1

DP
type: SiteQuality
SIO_000300: 2.362319e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.116e0

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

QD
type: SiteQuality
SIO_000300: 1.084e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21892
bin: 9.75e1
variant carriers: 221

GenotypeQuality
all individuals: 5420
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 73
allele frequency: 1.1121267519805e-2
allele num: 6564
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.995609658750748e-4
allele num: 10022
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.53514739229025e-3
allele num: 882
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 87
allele frequency: 1.332026824264323e-3
allele num: 65314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

South Asian
type: Population
allele count: 55
allele frequency: 3.358163389913298e-3
allele num: 16378
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.39e1

FS
type: SiteQuality
SIO_000300: 6.63e-1

DP
type: SiteQuality
SIO_000300: 2.360514e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

GenotypeQuality
all individuals: 372
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21733
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3626
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.00060036021613e-4
allele num: 9994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.066261920093214e-5
allele num: 65226
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.109481915933529e-5
allele num: 16368
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.14e0

DP
type: SiteQuality
SIO_000300: 2.3491e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.909e0

QD
type: SiteQuality
SIO_000300: 1.313e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4005
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3626
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2099
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535060788407221e-5
allele num: 65144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.001401962747847e-4
allele num: 9986
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.180080245456691e-4
allele num: 8474
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.345908e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

GenotypeQuality
all individuals: 2100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21730
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 365
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5384
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3910
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.071064430931761e-5
allele num: 65124
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.157e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

FS
type: SiteQuality
SIO_000300: 3.029e0

VQSLOD
type: SiteQuality
SIO_000300: 8.090000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.324e0

MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 2.345407e6

GenotypeQuality
all individuals: 3627
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21730
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 389
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2510
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3910
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535532215465881e-5
allele num: 65124
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.090000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.157e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 3.029e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.324e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 2.345407e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21729
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5372
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.124448799608035e-5
allele num: 16328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65084
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 1.392e1

FS
type: SiteQuality
SIO_000300: 3.544e0

VQSLOD
type: SiteQuality
SIO_000300: 9.72e-1

DP
type: SiteQuality
SIO_000300: 2.342346e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2507
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2047
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3627
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13598
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.838235294117647e-4
allele num: 16320
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65062
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.555e0

QD
type: SiteQuality
SIO_000300: 2.642e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.03e-1

DP
type: SiteQuality
SIO_000300: 2.341239e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 5.231e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.211e0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12745
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2483
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.055611729019212e-4
allele num: 9890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

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