4-71659548-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659548
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659548
    reference: chr 4
allele count: 5
allele frequency: 4.134760101218927e-5
allele num: 120926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4239C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1384C>T
  hgvsp: ENSP00000370394.3:p.Arg462Trp
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.347C>T
  hgvsp: ENST00000504805.2:c.347C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1225C>T
  hgvsp: ENSP00000425400.1:p.Arg409Trp
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28426
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9327
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg462Trp
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

4-71659549-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659549
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659549
    reference: chr 4
allele count: 8
allele frequency: 6.615287930407171e-5
allele num: 120932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4240G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.348G>A
  hgvsp: ENSP00000421120.2:p.Gly117Ser
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1385G>A
  hgvsp: ENSP00000370394.3:p.Arg462Gln
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1226G>A
  hgvsp: ENSP00000425400.1:p.Arg409Gln
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11038
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6910
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28491
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg462Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

4-71659559-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659559
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659559
    reference: chr 4
allele count: 1
allele frequency: 8.267195767195768e-6
allele num: 120960
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1395A>G
  hgvsp: ENST00000381006.3:c.1395A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.358A>G
  hgvsp: ENSP00000421120.2:p.Asn120Ser
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4250A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1236A>G
  hgvsp: ENST00000502653.1:c.1236A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3350
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9314
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4716
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6902
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn120Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

4-71659574-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659574
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659574
    reference: chr 4
allele count: 1
allele frequency: 8.268836409340477e-6
allele num: 120936
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1410C>G
  hgvsp: ENSP00000370394.3:p.Asp470Glu
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1251C>G
  hgvsp: ENSP00000425400.1:p.Asp417Glu
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.373C>G
  hgvsp: ENSP00000421120.2:p.Thr125Arg
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4265C>G
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4678
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3579
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp470Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

4-71659588-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659588
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659588
    reference: chr 4
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1265T>C
  hgvsp: ENSP00000425400.1:p.Leu422Pro
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4279T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.387T>C
  hgvsp: ENSP00000421120.2:p.Cys130Arg
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1424T>C
  hgvsp: ENSP00000370394.3:p.Leu475Pro
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6889
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28178
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu475Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

4-71659596-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659596
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659596
    reference: chr 4
allele count: 10
allele frequency: 8.280476292996373e-5
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.4G>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.395G>C
  hgvsp: ENSP00000421120.2:p.Trp132Cys
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1273G>C
  hgvsp: ENSP00000425400.1:p.Glu425Gln
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1432G>C
  hgvsp: ENSP00000370394.3:p.Glu478Gln
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4287G>C
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12874
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu478Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-71659601-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659601
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659601
    reference: chr 4
allele count: 3
allele frequency: 2.485048292771823e-5
allele num: 120722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4292C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1278C>T
  hgvsp: ENST00000502653.1:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1437C>T
  hgvsp: ENST00000381006.3:c.1437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.400C>T
  hgvsp: ENSP00000421120.2:p.Ser134Leu
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.9C>T
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4615
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 27656
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 113
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genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 177
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genotype quality: GenotypeQuality
  all individuals: 227
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genotype quality: GenotypeQuality
  all individuals: 740
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser134Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-71659602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659602
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659602
    reference: chr 4
allele count: 10
allele frequency: 8.285690612312537e-5
allele num: 120690
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1438G>A
  hgvsp: ENSP00000370394.3:p.Glu480Lys
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.401G>A
  hgvsp: ENST00000504805.2:c.401G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4293G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.10G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1279G>A
  hgvsp: ENSP00000425400.1:p.Glu427Lys
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22309
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6877
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 27800
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu480Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

4-71659607-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659607
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659607
    reference: chr 4
allele count: 1
allele frequency: 8.289949265510494e-6
allele num: 120628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4298G>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.406G>C
  hgvsp: ENSP00000421120.2:p.Ser136Thr
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1284G>C
  hgvsp: ENSP00000425400.1:p.Glu428Asp
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1443G>C
  hgvsp: ENSP00000370394.3:p.Glu481Asp
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.15G>C
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22207
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu481Asp
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

4-71659610-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659610
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659610
    reference: chr 4
allele count: 2
allele frequency: 1.659172736473594e-5
allele num: 120542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.409C>T
  hgvsp: ENSP00000421120.2:p.Ser137Leu
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1446C>T
  hgvsp: ENST00000381006.3:c.1446C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1287C>T
  hgvsp: ENST00000502653.1:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4301C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.18C>T
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser137Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-71659620-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659620
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659620
    reference: chr 4
allele count: 2
allele frequency: 1.66118475696867e-5
allele num: 120396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1456C>T
  hgvsp: ENSP00000370394.3:p.Arg486Trp
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4311C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.419C>T
  hgvsp: ENST00000504805.2:c.419C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1297C>T
  hgvsp: ENSP00000425400.1:p.Arg433Trp
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.28C>T
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12578
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6841
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg486Trp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

4-71659621-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659621
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659621
    reference: chr 4
allele count: 26
allele frequency: 2.160401502309968e-4
allele num: 120348
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1457G>A
  hgvsp: ENSP00000370394.3:p.Arg486Gln
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1298G>A
  hgvsp: ENSP00000425400.1:p.Arg433Gln
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4312G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.29G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.420G>A
  hgvsp: ENSP00000421120.2:p.Gly141Arg
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12509
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10864
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5731
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21746
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6854
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 8663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4480
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg486Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

4-71659622-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659622
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659622
    reference: chr 4
allele count: 1
allele frequency: 8.307579835842223e-6
allele num: 120372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1298+1G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.420+1G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4313G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1457+1G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.29+1G>A
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21752
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3233
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6828
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1457+1G>A
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

4-71659630-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659630
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659630
    reference: chr 4
allele count: 7
allele frequency: 5.824790307548928e-5
allele num: 120176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4321G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1457+9G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.420+9G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1298+9G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.29+9G>A
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21353
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6827
  bin: 9.75e1
  variant carriers: 7
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

4-71659630-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659630
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659630
    reference: chr 4
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.420+9G>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1457+9G>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1298+9G>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4321G>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.29+9G>C
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6827
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26215
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

4-71659630-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659630
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659630
    reference: chr 4
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1457+9G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4321G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1298+9G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.420+9G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.29+9G>T
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

4-71659632-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659632
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659632
    reference: chr 4
allele count: 1
allele frequency: 8.322652595835345e-6
allele num: 120154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4323G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1457+11G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.420+11G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.29+11G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1298+11G>T
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6815
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP

4-71659633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659633
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659633
    reference: chr 4
allele count: 1
allele frequency: 8.320990530712775e-6
allele num: 120178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1298+12G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.420+12G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4324G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1457+12G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.29+12G>A
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26404
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

4-71659633-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659633
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659633
    reference: chr 4
allele count: 1
allele frequency: 8.320990530712775e-6
allele num: 120178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.29+12G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.420+12G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4324G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1457+12G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1298+12G>T
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

4-71659634-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659634
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659634
    reference: chr 4
allele count: 8255
allele frequency: 6.876186985639557e-2
allele num: 120052
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1457+13T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4325T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1298+13T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.29+13T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.420+13T>C
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.75e1
  variant carriers: 204
genotype depth: GenotypeDepth
  all individuals: 20587
  bin: 2.75e1
  variant carriers: 918
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 1.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 11797
  bin: 3.25e1
  variant carriers: 1208
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 4.75e1
  variant carriers: 860
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 10215
  bin: 2.25e1
  variant carriers: 543
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 5.25e1
  variant carriers: 545
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 4.25e1
  variant carriers: 1166
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 343
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 3.75e1
  variant carriers: 1342
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7653
  bin: 6.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 8.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 8.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 24865
  bin: 6.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 3.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 443
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

4-71659650-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659650
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659650
    reference: chr 4
allele count: 1
allele frequency: 8.371142995864656e-6
allele num: 119458
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1457+29G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.420+29G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1298+29G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4341G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.29+29G>T
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11143
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3919
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

4-71659653-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659653
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659653
    reference: chr 4
allele count: 1
allele frequency: 8.375630266177531e-6
allele num: 119394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.420+32G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.29+32G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1457+32G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1298+32G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4344G>A
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9892
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2806
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4723
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

4-71659653-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71659653
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71659653
    reference: chr 4
allele count: 3
allele frequency: 2.512689079853259e-5
allele num: 119394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+4344G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.29+32G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1298+32G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1457+32G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.420+32G>T
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10960
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3875
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2806
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

4-71660462-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660462
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660462
    reference: chr 4
allele count: 2
allele frequency: 1.682538614261197e-5
allele num: 118868
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5153T>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.421-50T>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1458-50T>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.73T>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.30-50T>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1299-50T>G
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4380
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10285
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum

4-71660463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660463
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660463
    reference: chr 4
allele count: 1
allele frequency: 8.414675193537529e-6
allele num: 118840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.74C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1299-49C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5154C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.421-49C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1458-49C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.30-49C>T
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10532
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2874
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15645
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

4-71660464-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660464
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660464
    reference: chr 4
allele count: 32
allele frequency: 2.691201453248785e-4
allele num: 118906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5155T>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.75T>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1299-48T>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1458-48T>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.421-48T>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.30-48T>A
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10870
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9820
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13136
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

4-71660465-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660465
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660465
    reference: chr 4
allele count: 5
allele frequency: 4.211022773211158e-5
allele num: 118736
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5156G>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1458-47G>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1299-47G>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.421-47G>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.30-47G>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.76G>C
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11205
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13189
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15649
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

4-71660467-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660467
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660467
    reference: chr 4
allele count: 2
allele frequency: 1.681209125603134e-5
allele num: 118962
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1299-45A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.30-45A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.421-45A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1458-45A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5158A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.78A>G
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13302
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15672
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3876
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

4-71660468-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660468
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660468
    reference: chr 4
allele count: 2
allele frequency: 1.681124335955887e-5
allele num: 118968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1299-44T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1458-44T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5159T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.421-44T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.79T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.30-44T>C
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3890
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

4-71660475-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660475
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660475
    reference: chr 4
allele count: 17
allele frequency: 1.426820875228711e-4
allele num: 119146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.421-37C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.86C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.30-37C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5166C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1299-37C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1458-37C>T
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10407
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4045
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16766
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

4-71660480-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660480
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660480
    reference: chr 4
allele count: 3
allele frequency: 2.511973741501156e-5
allele num: 119428
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1299-32T>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1458-32T>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5171T>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.91T>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.30-32T>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.421-32T>G
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10646
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6752
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

4-71660485-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660485
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660485
    reference: chr 4
allele count: 61
allele frequency: 5.089865327169869e-4
allele num: 119846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.30-27A>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1458-27A>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1299-27A>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5176A>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.421-27A>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.96A>T
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14269
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10816
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16513
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4808
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18619
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

4-71660487-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660487
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660487
    reference: chr 4
allele count: 3
allele frequency: 2.499375156210947e-5
allele num: 120030
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.30-25C>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.421-25C>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.98C>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1458-25C>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5178C>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1299-25C>G
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14359
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6922
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15791
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/4-71660501-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660501
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660501
    reference: chr 4
allele count: 2
allele frequency: 1.651664051531918e-5
allele num: 121090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.112A>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5192A>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1458-11A>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.421-11A>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.30-11A>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1299-11A>C
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15875
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19385
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

4-71660501-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660501
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660501
    reference: chr 4
allele count: 11
allele frequency: 9.084152283425551e-5
allele num: 121090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5192A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1299-11A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.30-11A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.112A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.421-11A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1458-11A>G
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14524
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17076
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19385
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7125
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

4-71660506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660506
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660506
    reference: chr 4
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.421-6C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1299-6C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5197C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1458-6C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.117C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.30-6C>T
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1458-6C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum

4-71660514-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660514
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660514
    reference: chr 4
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.423A>G
  hgvsp: ENSP00000421120.2:p.Thr142Ala
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5205A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.125A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.32A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1301A>G
  hgvsp: ENSP00000425400.1:p.Asn434Ser
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1460A>G
  hgvsp: ENSP00000370394.3:p.Asn487Ser
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn487Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

4-71660514-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660514
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660514
    reference: chr 4
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.423A>T
  hgvsp: ENSP00000421120.2:p.Thr142Ser
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1301A>T
  hgvsp: ENSP00000425400.1:p.Asn434Ile
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5205A>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.125A>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.32A>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1460A>T
  hgvsp: ENSP00000370394.3:p.Asn487Ile
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15879
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn487Ile
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/4-71660519-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660519
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660519
    reference: chr 4
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1306C>A
  hgvsp: ENSP00000425400.1:p.Leu436Ile
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.428C>A
  hgvsp: ENSP00000421120.2:p.Ser143Arg
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.130C>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.37C>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1465C>A
  hgvsp: ENSP00000370394.3:p.Leu489Ile
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5210C>A
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu489Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

4-71660520-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660520
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660520
    reference: chr 4
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1307T>C
  hgvsp: ENSP00000425400.1:p.Leu436Pro
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.429T>C
  hgvsp: ENST00000504805.2:c.429T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5211T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.38T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.131T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1466T>C
  hgvsp: ENSP00000370394.3:p.Leu489Pro
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19543
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu489Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

4-71660525-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660525
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660525
    reference: chr 4
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5216T>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.136T>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.43T>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1471T>G
  hgvsp: ENSP00000370394.3:p.Leu491Val
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.434T>G
  hgvsp: ENSP00000421120.2:p.Ser145Arg
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1312T>G
  hgvsp: ENSP00000425400.1:p.Leu438Val
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15884
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu491Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

4-71660527-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660527
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660527
    reference: chr 4
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.138A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5218A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1473A>G
  hgvsp: ENST00000381006.3:c.1473A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.436A>G
  hgvsp: ENSP00000421120.2:p.Ter146TrpextTer2
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.45A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1314A>G
  hgvsp: ENST00000502653.1:c.1314A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ter146TrpextTer2
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/4-71660544-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660544
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660544
    reference: chr 4
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.155A>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5235A>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1331A>C
  hgvsp: ENSP00000425400.1:p.Lys444Thr
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.62A>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*16A>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1490A>C
  hgvsp: ENSP00000370394.3:p.Lys497Thr
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15888
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4949
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys497Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-71660547-AAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660547
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660544
    reference: chr 4
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1498_1500delAGA
  hgvsp: ENSP00000370394.3:p.Arg500del
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5243_133+5245delAGA
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.70_72delAGA
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*24_*26delAGA
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1339_1341delAGA
  hgvsp: ENSP00000425400.1:p.Arg447del
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.163_165delAGA
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15889
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg500del
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: AAAG
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-71660550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660550
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660550
    reference: chr 4
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1337G>A
  hgvsp: ENSP00000425400.1:p.Arg446Lys
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5241G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*22G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.161G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1496G>A
  hgvsp: ENSP00000370394.3:p.Arg499Lys
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.68G>A
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg499Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

4-71660563-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660563
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660563
    reference: chr 4
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.174C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1509C>T
  hgvsp: ENST00000381006.3:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5254C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1350C>T
  hgvsp: ENST00000502653.1:c.1350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*35C>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.81C>T
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7158
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn503Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-71660567-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660567
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660567
    reference: chr 4
allele count: 30
allele frequency: 2.47133254250692e-4
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1354A>G
  hgvsp: ENSP00000425400.1:p.Arg452Gly
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.178A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*39A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5258A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1513A>G
  hgvsp: ENSP00000370394.3:p.Arg505Gly
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.85A>G
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4947
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15910
  bin: 9.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg505Gly
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

4-71660575-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660575
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660575
    reference: chr 4
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1521C>G
  hgvsp: ENSP00000370394.3:p.Ile507Met
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1362C>G
  hgvsp: ENSP00000425400.1:p.Ile454Met
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.133+5266C>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.186C>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.93C>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*47C>G
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15902
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4948
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile507Met
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

4-71660586-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660586
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660586
    reference: chr 4
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1373G>A
  hgvsp: ENSP00000425400.1:p.Gly458Asp
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*58G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.104G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.197G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1532G>A
  hgvsp: ENSP00000370394.3:p.Gly511Asp
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.134-5272G>A
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15900
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly511Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

4-71660588-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660588
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660588
    reference: chr 4
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1534T>C
  hgvsp: ENSP00000370394.3:p.Ser512Pro
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.134-5270T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*60T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.199T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1375T>C
  hgvsp: ENSP00000425400.1:p.Ser459Pro
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.106T>C
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4949
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser512Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

4-71660588-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660588
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660589
    reference: chr 4
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.202dupC
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1537dupC
  hgvsp: ENSP00000370394.3:p.Gln513ProfsTer19
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1378dupC
  hgvsp: ENSP00000425400.1:p.Gln460ProfsTer19
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*63dupC
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.109dupC
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.134-5267dupC
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4949
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln513ProfsTer19
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

4-71660610-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660610
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660610
    reference: chr 4
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.128T>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1556T>G
  hgvsp: ENSP00000370394.3:p.Met519Arg
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1397T>G
  hgvsp: ENSP00000425400.1:p.Met466Arg
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.221T>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*82T>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.134-5248T>G
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met519Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

4-71660611-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660611
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660611
    reference: chr 4
allele count: 3
allele frequency: 2.473043822336532e-5
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*83G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.134-5247G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1557G>A
  hgvsp: ENSP00000370394.3:p.Met519Ile
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.129G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1398G>A
  hgvsp: ENSP00000425400.1:p.Met466Ile
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.222G>A
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met519Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

4-71660623-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660623
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660623
    reference: chr 4
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1557+12T>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*83+12T>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.134-5235T>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1398+12T>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.222+12T>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.129+12T>A
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15901
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7091
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

4-71660623-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660623
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660623
    reference: chr 4
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.129+12T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*83+12T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1398+12T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.134-5235T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.222+12T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1557+12T>C
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7091
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

4-71660632-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660632
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660632
    reference: chr 4
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*83+21G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.222+21G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1398+21G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1557+21G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.134-5226G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.129+21G>A
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4919
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

4-71660639-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660639
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660639
    reference: chr 4
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*83+28T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.134-5219T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.129+28T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.222+28T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1557+28T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1398+28T>C
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4898
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6877
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18588
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-71660641-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660641
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660640
    reference: chr 4
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1557+32delT
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.222+32delT
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*83+32delT
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.134-5215delT
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1398+32delT
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.129+32delT
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15898
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18407
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genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: CT
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

4-71660646-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660646
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660646
    reference: chr 4
allele count: 1
allele frequency: 8.262277744728666e-6
allele num: 121032
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.222+35T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*83+35T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.134-5212T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1557+35T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.129+35T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1398+35T>C
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15899
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6693
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

4-71660663-GAGGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71660663
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71660659
    reference: chr 4
allele count: 3
allele frequency: 2.486490070616318e-5
allele num: 120652
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1557+53_1557+56delAGGC
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*83+53_*83+56delAGGC
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.134-5194_134-5191delAGGC
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.222+53_222+56delAGGC
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1398+53_1398+56delAGGC
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.129+53_129+56delAGGC
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6444
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15902
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: GAGGC
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD

4-71665818-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71665818
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71665818
    reference: chr 4
allele count: 1
allele frequency: 8.660408078428655e-6
allele num: 115468
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000515479
  gene symbol: RUFY3
  hgvsc: ENST00000515479.1:n.654T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*84-40T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000512331
  gene symbol: RUFY3
  hgvsc: ENST00000512331.1:n.472-40T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.130-40T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.134-40T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.223-40T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1558-40T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1399-40T>C
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12531
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

4-71665819-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71665819
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71665819
    reference: chr 4
allele count: 1
allele frequency: 8.657409010631298e-6
allele num: 115508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000512331
  gene symbol: RUFY3
  hgvsc: ENST00000512331.1:n.472-39T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1558-39T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*84-39T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.130-39T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.134-39T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.223-39T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000515479
  gene symbol: RUFY3
  hgvsc: ENST00000515479.1:n.655T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1399-39T>C
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

4-71665821-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71665821
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71665821
    reference: chr 4
allele count: 1
allele frequency: 8.654711625008655e-6
allele num: 115544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.223-37T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.134-37T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000512331
  gene symbol: RUFY3
  hgvsc: ENST00000512331.1:n.472-37T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.130-37T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000515479
  gene symbol: RUFY3
  hgvsc: ENST00000515479.1:n.657T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*84-37T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1558-37T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1399-37T>C
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7509
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

4-71665832-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71665832
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71665832
    reference: chr 4
allele count: 1
allele frequency: 8.589736982253604e-6
allele num: 116418
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000512331
  gene symbol: RUFY3
  hgvsc: ENST00000512331.1:n.472-26T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*84-26T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.130-26T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1399-26T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000515479
  gene symbol: RUFY3
  hgvsc: ENST00000515479.1:n.668T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.134-26T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.223-26T>C
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1558-26T>C
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3103
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

4-71665833-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71665833
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71665833
    reference: chr 4
allele count: 1
allele frequency: 8.577506347354697e-6
allele num: 116584
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1558-25A>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000512331
  gene symbol: RUFY3
  hgvsc: ENST00000512331.1:n.472-25A>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000515479
  gene symbol: RUFY3
  hgvsc: ENST00000515479.1:n.669A>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1399-25A>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.130-25A>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*84-25A>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.223-25A>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.134-25A>T
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

4-71665840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71665840
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71665840
    reference: chr 4
allele count: 2
allele frequency: 1.703113291096124e-5
allele num: 117432
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1558-18G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.130-18G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000515479
  gene symbol: RUFY3
  hgvsc: ENST00000515479.1:n.676G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000512331
  gene symbol: RUFY3
  hgvsc: ENST00000512331.1:n.472-18G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*84-18G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.223-18G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.134-18G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1399-18G>A
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4811
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

4-71665854-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71665854
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71665854
    reference: chr 4
allele count: 1
allele frequency: 8.417508417508417e-6
allele num: 118800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.223-4G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.134-4G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000515479
  gene symbol: RUFY3
  hgvsc: ENST00000515479.1:n.690G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1399-4G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000512331
  gene symbol: RUFY3
  hgvsc: ENST00000512331.1:n.472-4G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1558-4G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*84-4G>T
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.130-4G>T
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1558-4G>T
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: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

4-71665879-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71665879
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71665879
    reference: chr 4
allele count: 1
allele frequency: 8.364001338240215e-6
allele num: 119560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000512331
  gene symbol: RUFY3
  hgvsc: ENST00000512331.1:n.493G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1420G>A
  hgvsp: ENSP00000425400.1:p.Glu474Lys
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*105G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1579G>A
  hgvsp: ENSP00000370394.3:p.Glu527Lys
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.151G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.244G>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.155G>A
  hgvsp: ENST00000512103.1:c.155G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000515479
  gene symbol: RUFY3
  hgvsc: ENST00000515479.1:n.715G>A
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu527Lys
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff

4-71665889-TTAAAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71665889
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71665884
    reference: chr 4
allele count: 1
allele frequency: 8.387291575804341e-6
allele num: 119228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.170_*1delCTAAA
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*117_*121delAAACT
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1594_1598delCTAAA
  hgvsp: ENSP00000370394.3:p.Leu532LysfsTer16
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.259_263delCTAAA
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1435_1439delCTAAA
  hgvsp: ENSP00000425400.1:p.Leu479LysfsTer16
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000515479
  gene symbol: RUFY3
  hgvsc: ENST00000515479.1:n.730_734delCTAAA
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.166_170delCTAAA
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000512331
  gene symbol: RUFY3
  hgvsc: ENST00000512331.1:n.508_512delCTAAA
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu532LysfsTer16
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: TTAAAC
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

4-71665890-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71665890
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71665889
    reference: chr 4
allele count: 7
allele frequency: 5.873271580077863e-5
allele num: 119184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*119delA
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000512331
  gene symbol: RUFY3
  hgvsc: ENST00000512331.1:n.507delA
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.165delA
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1593delA
  hgvsp: ENSP00000370394.3:p.Lys531AsnfsTer2
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1434delA
  hgvsp: ENSP00000425400.1:p.Lys478AsnfsTer2
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000515479
  gene symbol: RUFY3
  hgvsc: ENST00000515479.1:n.729delA
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.169delA
  hgvsp: ENSP00000420980.1:p.Asn57ThrfsTer18
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.258delA
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys531AsnfsTer2
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: TA
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

4-71665890-TAAACTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71665890
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71665884
    reference: chr 4
allele count: 1
allele frequency: 8.390387971539804e-6
allele num: 119184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.170_*2delCTAAAA
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000515479
  gene symbol: RUFY3
  hgvsc: ENST00000515479.1:n.730_735delCTAAAA
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*117_*122delAAACTA
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.166_171delCTAAAA
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1435_1440delCTAAAA
  hgvsp: ENSP00000425400.1:p.Leu479_Lys480del
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1594_1599delCTAAAA
  hgvsp: ENSP00000370394.3:p.Leu532_Lys533del
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000512331
  gene symbol: RUFY3
  hgvsc: ENST00000512331.1:n.508_513delCTAAAA
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.259_264delCTAAAA
  variant of: http://identifiers.org/hgnc/30285
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: TAAACTA
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/4-71665894-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71665894
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71665894
    reference: chr 4
allele count: 2
allele frequency: 1.68177460856696e-5
allele num: 118922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.170C>A
  hgvsp: ENSP00000420980.1:p.Asn57Lys
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.259C>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1594C>A
  hgvsp: ENSP00000370394.3:p.Leu532Ile
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000512331
  gene symbol: RUFY3
  hgvsc: ENST00000512331.1:n.508C>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000515479
  gene symbol: RUFY3
  hgvsc: ENST00000515479.1:n.730C>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.166C>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*120C>A
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1435C>A
  hgvsp: ENSP00000425400.1:p.Leu479Ile
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu532Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

4-71665899-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71665899
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 71665899
    reference: chr 4
allele count: 3
allele frequency: 2.52925505007925e-5
allele num: 118612
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000503025
  gene symbol: RUFY3
  hgvsc: ENST00000503025.1:n.264A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000515479
  gene symbol: RUFY3
  hgvsc: ENST00000515479.1:n.735A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000421120
  ensembl transcript: ENST00000504805
  gene symbol: RUFY3
  hgvsc: ENST00000504805.2:c.*125A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000512331
  gene symbol: RUFY3
  hgvsc: ENST00000512331.1:n.513A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000370394
  ensembl transcript: ENST00000381006
  gene symbol: RUFY3
  hgvsc: ENST00000381006.3:c.1599A>G
  hgvsp: ENST00000381006.3:c.1599A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000425400
  ensembl transcript: ENST00000502653
  gene symbol: RUFY3
  hgvsc: ENST00000502653.1:c.1440A>G
  hgvsp: ENST00000502653.1:c.1440A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000018189
  ensembl transcript: ENST00000507333
  gene symbol: RUFY3
  hgvsc: ENST00000507333.1:n.171A>G
  variant of: http://identifiers.org/hgnc/30285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000018189
  ensembl protein: ENSP00000420980
  ensembl transcript: ENST00000512103
  gene symbol: RUFY3
  hgvsc: ENST00000512103.1:c.*2A>G
  variant of: http://identifiers.org/hgnc/30285
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31582
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys533Lys
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 4721
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6914
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1471
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.522190461862494e-5
allele num: 66470
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.122e0

DP
type: SiteQuality
SIO_000300: 1.873099e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

QD
type: SiteQuality
SIO_000300: 1.344e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.79e-1

GenotypeQuality
all individuals: 3346
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4719
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3609
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.734003814808393e-4
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.854368932038835e-4
allele num: 10300
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504347564461293e-5
allele num: 66474
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 9.02e-1

DP
type: SiteQuality
SIO_000300: 1.873061e6

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

FS
type: SiteQuality
SIO_000300: 2.534e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.57e-1

QD
type: SiteQuality
SIO_000300: 1.246e1

GenotypeQuality
all individuals: 112
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28449
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.695559433779329e-5
allele num: 10314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
SIO_000300: 1.87227e6

FS
type: SiteQuality
SIO_000300: 2.577e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

QD
type: SiteQuality
SIO_000300: 1.423e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1460
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6896
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3331
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66470
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

MQ
type: SiteQuality
SIO_000300: 5.811e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.311e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 7.177e0

DP
type: SiteQuality
SIO_000300: 1.870547e6

QD
type: SiteQuality
SIO_000300: 1.466e1

GenotypeQuality
all individuals: 158
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3552
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4666
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.272e0

VQSLOD
type: SiteQuality
SIO_000300: -1.126e-1

QD
type: SiteQuality
SIO_000300: 1.051e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.14e-1

FS
type: SiteQuality
SIO_000300: 1.209e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.227e0

DP
type: SiteQuality
SIO_000300: 1.866945e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 374
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6890
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 27612
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66346
num of homozygotes: 0

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

South Asian
type: Population
allele count: 10
allele frequency: 6.062810719049351e-4
allele num: 16494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

QD
type: SiteQuality
SIO_000300: 1.551e1

DP
type: SiteQuality
SIO_000300: 1.861267e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e-1

FS
type: SiteQuality
SIO_000300: 3.998e0

VQSLOD
type: SiteQuality
SIO_000300: 7.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

GenotypeQuality
all individuals: 6876
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 224
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9036
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3499
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.606429192006951e-4
allele num: 11510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.858881e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

QD
type: SiteQuality
SIO_000300: 9.01e0

FS
type: SiteQuality
SIO_000300: 1.822e0

VQSLOD
type: SiteQuality
SIO_000300: 1.46e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4607
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9023
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3294
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.706853038245001e-5
allele num: 10302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

South Asian
type: Population
allele count: 9
allele frequency: 5.456529647144416e-4
allele num: 16494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66302
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.858214e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

QD
type: SiteQuality
SIO_000300: 1.299e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.554e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4611
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1995
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6860
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3473
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27723
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.098e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.854052e6

GenotypeQuality
all individuals: 216
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1995
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4584
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1442
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6857
bin: 9.75e1
variant carriers: 2

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212856276531231e-4
allele num: 16490
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 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: 11498
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.335e0

DP
type: SiteQuality
SIO_000300: 1.850801e6

QD
type: SiteQuality
SIO_000300: 2.649e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.9193e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.34e-1

GenotypeQuality
all individuals: 442
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27213
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8704
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.703220191470844e-5
allele num: 11490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512721991952319e-5
allele num: 66106
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.051e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 1.842853e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26833
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3231
bin: 8.25e1
variant carriers: 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: 1.513225591671206e-5
allele num: 66084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

Latino
type: Population
allele count: 24
allele frequency: 2.090228183243338e-3
allele num: 11482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

DP
type: SiteQuality
SIO_000300: 1.8396e6

QD
type: SiteQuality
SIO_000300: 1.207e1

GenotypeQuality
all individuals: 234
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1432
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 475
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4482
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.706251088281386e-5
allele num: 11486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.838558e6

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.326e0

QD
type: SiteQuality
SIO_000300: 1.923e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.586e0

GenotypeQuality
all individuals: 664
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4442
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3217
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 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: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515059693351918e-5
allele num: 66004
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.647859922178988e-4
allele num: 16448
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.152e0

DP
type: SiteQuality
SIO_000300: 1.827447e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: 5.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.91e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

GenotypeQuality
all individuals: 8547
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4442
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1965
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3329
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3217
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515059693351918e-5
allele num: 66004
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.55e-1

FS
type: SiteQuality
SIO_000300: 2.152e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.91e-1

DP
type: SiteQuality
SIO_000300: 1.827447e6

QD
type: SiteQuality
SIO_000300: 1.251e1

GenotypeQuality
all individuals: 1965
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8547
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3329
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6827
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66004
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.778994719342852e-5
allele num: 10226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.14e-1

DP
type: SiteQuality
SIO_000300: 1.827447e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 2.152e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

MQRankSum
type: SiteQuality
SIO_000300: -8.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.91e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.55e-1

GenotypeQuality
all individuals: 1604
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1965
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26200
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515381118351265e-5
allele num: 65990
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.016e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.414e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.36e-1

QD
type: SiteQuality
SIO_000300: 6.65e0

FS
type: SiteQuality
SIO_000300: 5.15e0

DP
type: SiteQuality
SIO_000300: 1.824399e6

GenotypeQuality
all individuals: 498
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6814
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3202
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65998
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: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.872e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.823815e6

VQSLOD
type: SiteQuality
SIO_000300: 5.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.204e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

QD
type: SiteQuality
SIO_000300: 1.337e1

GenotypeQuality
all individuals: 26404
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3202
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6814
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 399
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1959
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515197430225158e-5
allele num: 65998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.823815e6

QD
type: SiteQuality
SIO_000300: 1.337e1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: 5.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.872e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.204e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1441
bin: 9.25e1
variant carriers: 33

GenotypeQuality
all individuals: 3731
bin: 7.75e1
variant carriers: 30

GenotypeQuality
all individuals: 11883
bin: 9.75e1
variant carriers: 7616

GenotypeQuality
all individuals: 2808
bin: 7.25e1
variant carriers: 19

GenotypeQuality
all individuals: 323
bin: 5.75e1
variant carriers: 9

East Asian
type: Population
allele count: 1800
allele frequency: 2.094484524086572e-1
allele num: 8594
num of homozygotes: 176

European (Non-Finnish)
type: Population
allele count: 2300
allele frequency: 3.488336821670155e-2
allele num: 65934
num of homozygotes: 54

European (Finnish)
type: Population
allele count: 152
allele frequency: 2.337023370233702e-2
allele num: 6504
num of homozygotes: 0

Latino
type: Population
allele count: 1082
allele frequency: 9.444832402234637e-2
allele num: 11456
num of homozygotes: 46

African
type: Population
allele count: 1144
allele frequency: 1.118498240125147e-1
allele num: 10228
num of homozygotes: 58

Other
type: Population
allele count: 45
allele frequency: 5.011135857461024e-2
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 1732
allele frequency: 1.053656162550189e-1
allele num: 16438
num of homozygotes: 109

QD
type: SiteQuality
SIO_000300: 1.529e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.84e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

FS
type: SiteQuality
SIO_000300: 6.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

DP
type: SiteQuality
SIO_000300: 1.859423e6

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

GenotypeQuality
all individuals: 7633
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4722
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2725
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24420
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524250830716703e-5
allele num: 65606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.75e0

VQSLOD
type: SiteQuality
SIO_000300: -8.270999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.472e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

DP
type: SiteQuality
SIO_000300: 1.703657e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 9.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e-1

GenotypeQuality
all individuals: 283
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7507
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3875
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65594
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.755034144633164e-5
allele num: 11422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.767e0

FS
type: SiteQuality
SIO_000300: 3.361e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

DP
type: SiteQuality
SIO_000300: 1.700599e6

QD
type: SiteQuality
SIO_000300: 1.194e1

GenotypeQuality
all individuals: 4723
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 680
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2213
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7507
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.835760616815567e-4
allele num: 16342
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.194e1

FS
type: SiteQuality
SIO_000300: 3.361e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.767e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

DP
type: SiteQuality
SIO_000300: 1.700599e6

GenotypeQuality
all individuals: 2884
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2801
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5914
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15646
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1969
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3823
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.218323586744639e-4
allele num: 16416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65174
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 1.342e1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.992696e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.292e0

GenotypeQuality
all individuals: 140
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1973
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10816
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3800
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5965
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534495457893445e-5
allele num: 65168
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

DP
type: SiteQuality
SIO_000300: 1.994514e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.367e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.469e1

GenotypeQuality
all individuals: 1755
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4394
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15675
bin: 9.75e1
variant carriers: 32

GenotypeQuality
all individuals: 2080
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11433
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6070
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3008
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.607361963190184e-4
allele num: 65200
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.69846587903368e-4
allele num: 11342
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.434867299732165e-4
allele num: 16428
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.997033e6

VQSLOD
type: SiteQuality
SIO_000300: 5.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.467e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.108e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

GenotypeQuality
all individuals: 4350
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3801
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3004
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1988
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1683
bin: 5.25e1
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: 11312
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.678132678132678e-5
allele num: 65120
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.000325e6

MQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

QD
type: SiteQuality
SIO_000300: 1.445e1

GenotypeQuality
all individuals: 6204
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4410
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3031
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2914
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.22040517451794e-4
allele num: 8194
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532895947023116e-5
allele num: 65236
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

QD
type: SiteQuality
SIO_000300: 1.33e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e0

DP
type: SiteQuality
SIO_000300: 2.008215e6

GenotypeQuality
all individuals: 1040
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15682
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6277
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2928
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.065040152025992e-5
allele num: 65252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e0

DP
type: SiteQuality
SIO_000300: 2.012078e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.31e1

GenotypeQuality
all individuals: 15736
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 428
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2101
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

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

African
type: Population
allele count: 17
allele frequency: 1.65337482979965e-3
allele num: 10282
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

QD
type: SiteQuality
SIO_000300: 1.446e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.040189e6

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17487
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15768
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4735
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.578614816397546e-5
allele num: 65522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 1.738e1

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.47e-1

DP
type: SiteQuality
SIO_000300: 2.056079e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

GenotypeQuality
all individuals: 6893
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3179
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15820
bin: 9.75e1
variant carriers: 61

GenotypeQuality
all individuals: 2164
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

South Asian
type: Population
allele count: 49
allele frequency: 2.975106253794779e-3
allele num: 16470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.823763640232226e-4
allele num: 65798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.644e0

QD
type: SiteQuality
SIO_000300: 1.335e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.08e0

DP
type: SiteQuality
SIO_000300: 2.071608e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4203
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18784
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
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: 8360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.551108953548348e-5
allele num: 65918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
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: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

FS
type: SiteQuality
SIO_000300: 3.437e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

QD
type: SiteQuality
SIO_000300: 1.547e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

DP
type: SiteQuality
SIO_000300: 2.074285e6

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

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

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

GenotypeQuality
all individuals: 4300
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3251
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4935
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 166
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7125
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004536850644473e-5
allele num: 66566
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e0

QD
type: SiteQuality
SIO_000300: 1.47e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 1.776e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 2.093287e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

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

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4300
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15875
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3239
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.654410053525716e-4
allele num: 8594
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502268425322237e-5
allele num: 66566
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.424242424242424e-4
allele num: 16500
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e0

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

FS
type: SiteQuality
SIO_000300: 1.776e0

QD
type: SiteQuality
SIO_000300: 1.47e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 2.093287e6

GenotypeQuality
all individuals: 3240
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15873
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2236
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4934
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4300
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7136
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3253
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.094494e6

MQRankSum
type: SiteQuality
SIO_000300: 2.05e0

VQSLOD
type: SiteQuality
SIO_000300: -1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.094e0

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 8.99e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.763e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
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MQRankSum
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SIO_000300: 6.54e-1

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

DP
type: SiteQuality
SIO_000300: 2.096369e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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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
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

QD
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQ
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SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.006e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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SIO_000300: 2.096931e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.356e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.478e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.436e0

DP
type: SiteQuality
SIO_000300: 2.096992e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.718e0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.638e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: -1.06e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.262e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66708
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
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.09736e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

BaseQRankSum
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SIO_000300: 2.97e0

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.123e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
type: Population
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allele num: 906
num of homozygotes: 0

Latino
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: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

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

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

QD
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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MQRankSum
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VQSLOD
type: SiteQuality
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DP
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -9.320000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele num: 10398
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele num: 66714
num of homozygotes: 0

DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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ClippingRankSum
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SIO_000300: -2.9e-2

InbreedingCoeff
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MQRankSum
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FS
type: SiteQuality
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MQ
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997601918465228e-5
allele num: 66720
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

East Asian
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allele num: 8654
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.866e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

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

Latino
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele num: 16510
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Other
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allele num: 908
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.986e1

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

Latino
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num of homozygotes: 0

Other
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DP
type: SiteQuality
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BaseQRankSum
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QD
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InbreedingCoeff
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FS
type: SiteQuality
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

GenotypeQuality
all individuals: 7151
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2237
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4312
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 25
allele frequency: 2.402460119162022e-3
allele num: 10406
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.46e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.261e0

DP
type: SiteQuality
SIO_000300: 2.102399e6

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

QD
type: SiteQuality
SIO_000300: 1.071e1

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

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19604
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7153
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.638e0

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

VQSLOD
type: SiteQuality
SIO_000300: -1.207e0

FS
type: SiteQuality
SIO_000300: 8.669e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

QD
type: SiteQuality
SIO_000300: 1.047e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.09948e6

GenotypeQuality
all individuals: 2238
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3243
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19590
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3257
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.098921e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.31e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.261e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.09e-1

FS
type: SiteQuality
SIO_000300: 6.33e-1

QD
type: SiteQuality
SIO_000300: 8.18e0

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

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

GenotypeQuality
all individuals: 7148
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19587
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15904
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

MQ
type: SiteQuality
SIO_000300: 6.022e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

QD
type: SiteQuality
SIO_000300: 1.347e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

DP
type: SiteQuality
SIO_000300: 2.099429e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

GenotypeQuality
all individuals: 19587
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15904
bin: 9.75e1
variant carriers: 3

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

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

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

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

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

African
type: Population
allele count: 3
allele frequency: 2.883506343713956e-4
allele num: 10404
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

MQ
type: SiteQuality
SIO_000300: 6.022e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.67e-1

QD
type: SiteQuality
SIO_000300: 1.347e1

DP
type: SiteQuality
SIO_000300: 2.099429e6

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

GenotypeQuality
all individuals: 3258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4944
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19501
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15902
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 6.07e-1

DP
type: SiteQuality
SIO_000300: 2.0974e6

QD
type: SiteQuality
SIO_000300: 1.325e1

FS
type: SiteQuality
SIO_000300: 6.870000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

GenotypeQuality
all individuals: 3235
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19505
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4943
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7135
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15905
bin: 9.75e1
variant carriers: 3

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000120004800192e-5
allele num: 66664
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.42e-2

QD
type: SiteQuality
SIO_000300: 1.197e1

FS
type: SiteQuality
SIO_000300: 4.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.363e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.02e-1

DP
type: SiteQuality
SIO_000300: 2.097529e6

GenotypeQuality
all individuals: 4931
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19281
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4312
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.093224e6

FS
type: SiteQuality
SIO_000300: 6.269e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.341e1

GenotypeQuality
all individuals: 4931
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19281
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3224
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15901
bin: 9.75e1
variant carriers: 1

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

DP
type: SiteQuality
SIO_000300: 2.093224e6

FS
type: SiteQuality
SIO_000300: 6.269e0

QD
type: SiteQuality
SIO_000300: 1.341e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15899
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3213
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3255
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4302
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502268425322237e-5
allele num: 66566
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.657e0

QD
type: SiteQuality
SIO_000300: 1.393e1

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.281e-1

FS
type: SiteQuality
SIO_000300: 6.686e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.38e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

DP
type: SiteQuality
SIO_000300: 2.086436e6

GenotypeQuality
all individuals: 3252
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15896
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 204
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4294
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

QD
type: SiteQuality
SIO_000300: 1.488e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 8.045e0

DP
type: SiteQuality
SIO_000300: 2.078009e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.06e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.28e-1

FS
type: SiteQuality
SIO_000300: 1.174e0

DP
type: SiteQuality
SIO_000300: 2.075458e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e0

VQSLOD
type: SiteQuality
SIO_000300: 3.36e0

MQ
type: SiteQuality
SIO_000300: 6.046e1

QD
type: SiteQuality
SIO_000300: 1.522e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.095330976472023e-5
allele num: 16406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.66e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -7.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.453e1

DP
type: SiteQuality
SIO_000300: 2.067383e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4859
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016136329362087e-5
allele num: 66310
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.348e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.612e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.498e0

DP
type: SiteQuality
SIO_000300: 2.052312e6

MQRankSum
type: SiteQuality
SIO_000300: -3.162e0

VQSLOD
type: SiteQuality
SIO_000300: -7.477e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.02e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.299609424215698e-5
allele num: 15874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63300
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.174e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.501892e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

GenotypeQuality
all individuals: 95
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4431
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9568
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579379619685388e-5
allele num: 63316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15874
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

QD
type: SiteQuality
SIO_000300: 1.185e1

DP
type: SiteQuality
SIO_000300: 1.507829e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.86e-1

FS
type: SiteQuality
SIO_000300: 4.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.896797153024912e-5
allele num: 11240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15878
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.075e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

DP
type: SiteQuality
SIO_000300: 1.521898e6

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.862105636299185e-5
allele num: 11284
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63894
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.13e-1

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63984
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.855827134254339e-5
allele num: 11292
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.904e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.585607e6

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.524e0

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3103
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 6.219679064560268e-5
allele num: 16078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549762886278399e-5
allele num: 64526
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.063e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 1.809e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.092e0

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.613122e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9930
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.765778401122019e-5
allele num: 11408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.54e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 4.335e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.604e0

VQSLOD
type: SiteQuality
SIO_000300: 1.41e-1

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

DP
type: SiteQuality
SIO_000300: 1.641983e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3102
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52008026023774e-5
allele num: 65786
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.06e-1

DP
type: SiteQuality
SIO_000300: 1.65738e6

QD
type: SiteQuality
SIO_000300: 1.323e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

GenotypeQuality
all individuals: 800
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 439
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GenotypeQuality
all individuals: 1305
bin: 7.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.16294835449279e-5
allele num: 16226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.988e0

DP
type: SiteQuality
SIO_000300: 1.653848e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.2196e1

QD
type: SiteQuality
SIO_000300: 7.92e0

MQ
type: SiteQuality
SIO_000300: 5.308e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

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

GenotypeQuality
all individuals: 231
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 210
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GenotypeQuality
all individuals: 3105
bin: 9.75e1
variant carriers: 7

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

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

East Asian
type: Population
allele count: 6
allele frequency: 7.154781779155736e-4
allele num: 8386
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

MQ
type: SiteQuality
SIO_000300: 6.029e1

QD
type: SiteQuality
SIO_000300: 1.365e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 1.094e0

DP
type: SiteQuality
SIO_000300: 1.65344e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 210
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.869719699960521e-5
allele num: 10132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65548
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

FS
type: SiteQuality
SIO_000300: 1.094e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.65344e6

MQ
type: SiteQuality
SIO_000300: 6.029e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5014
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65386
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.751313485113835e-4
allele num: 11420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16194
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.398e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.673e0

DP
type: SiteQuality
SIO_000300: 1.648956e6

ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.296e1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

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