5-112228768-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228768
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228768
    reference: chr 5
allele count: 3
allele frequency: 4.05120725976341e-5
allele num: 74052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.325-5888A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.392-254A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.352-5888A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.482-5888A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.492-254A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272869
  ensembl transcript: ENST00000512790
  gene symbol: CTC-487M23.8
  hgvsc: ENST00000512790.1:n.1842T>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000212643
  ensembl protein: ENSP00000375133
  ensembl transcript: ENST00000391338
  gene symbol: ZRSR1
  hgvsc: ENST00000391338.1:c.1432T>A
  hgvsp: ENSP00000375133.1:p.Ser478Thr
  variant of: http://identifiers.org/hgnc/12456
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-5888A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+9309A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.352-254A>T
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14365
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8545
  bin: 7.5e0
  variant carriers: 2
hgvs: p.Ser478Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

5-112228769-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228769
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228769
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 78032
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.352-5889G>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.392-255G>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+9308G>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000212643
  ensembl protein: ENSP00000375133
  ensembl transcript: ENST00000391338
  gene symbol: ZRSR1
  hgvsc: ENST00000391338.1:c.1433C>G
  hgvsp: ENSP00000375133.1:p.Ser478Cys
  variant of: http://identifiers.org/hgnc/12456
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.492-255G>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.325-5889G>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.352-255G>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272869
  ensembl transcript: ENST00000512790
  gene symbol: CTC-487M23.8
  hgvsc: ENST00000512790.1:n.1843C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.482-5889G>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-5889G>C
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14872
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8859
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser478Cys
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

5-112228774-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228774
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228774
    reference: chr 5
allele count: 10
allele frequency: 1.967342120794806e-4
allele num: 50830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-5894A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.352-260A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000272869
  ensembl transcript: ENST00000512790
  gene symbol: CTC-487M23.8
  hgvsc: ENST00000512790.1:n.1848T>A
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000212643
  ensembl protein: ENSP00000375133
  ensembl transcript: ENST00000391338
  gene symbol: ZRSR1
  hgvsc: ENST00000391338.1:c.1438T>A
  hgvsp: ENSP00000375133.1:p.Ter480LysextTer?
  variant of: http://identifiers.org/hgnc/12456
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.352-5894A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+9303A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.325-5894A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.492-260A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.392-260A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.482-5894A>T
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: stop lost
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18618
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22225
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ter480LysextTer?
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-112228778-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228778
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228778
    reference: chr 5
allele count: 2
allele frequency: 4.378092027494418e-5
allele num: 45682
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000212643
  ensembl protein: ENSP00000375133
  ensembl transcript: ENST00000391338
  gene symbol: ZRSR1
  hgvsc: ENST00000391338.1:c.*2C>A
  variant of: http://identifiers.org/hgnc/12456
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.392-264G>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.482-5898G>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.325-5898G>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+9299G>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.352-5898G>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.492-264G>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.352-264G>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-5898G>T
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18521
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3679
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21613
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3842
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 3.25e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

5-112228779-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228779
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228779
    reference: chr 5
allele count: 1
allele frequency: 2.457727093983484e-5
allele num: 40688
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.352-5899A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.352-265A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.482-5899A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000212643
  ensembl protein: ENSP00000375133
  ensembl transcript: ENST00000391338
  gene symbol: ZRSR1
  hgvsc: ENST00000391338.1:c.*3T>A
  variant of: http://identifiers.org/hgnc/12456
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.392-265A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.492-265A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-5899A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+9298A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.325-5899A>T
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17674
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3719
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS

5-112228781-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228781
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228781
    reference: chr 5
allele count: 1
allele frequency: 3.335779571685903e-5
allele num: 29978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.482-5901C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000212643
  ensembl protein: ENSP00000375133
  ensembl transcript: ENST00000391338
  gene symbol: ZRSR1
  hgvsc: ENST00000391338.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/12456
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+9296C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-5901C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.352-5901C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.325-5901C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.352-267C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.392-267C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.492-267C>T
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16675
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4609
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-112228786-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228786
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228786
    reference: chr 5
allele count: 114
allele frequency: 2.097902097902098e-2
allele num: 5434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.482-5906C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+9291C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.325-5906C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.492-272C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.392-272C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000212643
  ensembl protein: ENSP00000375133
  ensembl transcript: ENST00000391338
  gene symbol: ZRSR1
  hgvsc: ENST00000391338.1:c.*10G>T
  variant of: http://identifiers.org/hgnc/12456
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.352-272C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-5906C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.352-5906C>A
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 15636
  bin: 1.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 1.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24464
  bin: 7.5e0
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 1.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 9.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 26953
  bin: 2.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 2.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.25e1
  variant carriers: 12
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

5-112228789-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228789
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228790
    reference: chr 5
allele count: 20
allele frequency: 1.225490196078431e-2
allele num: 1632
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.492-276dupA
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-5910dupA
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.392-276dupA
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+9287dupA
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.352-276dupA
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000212643
  ensembl protein: ENSP00000375133
  ensembl transcript: ENST00000391338
  gene symbol: ZRSR1
  variant of: http://identifiers.org/hgnc/12456
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.352-5910dupA
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.325-5910dupA
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.482-5910dupA
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 22724
  bin: 7.5e0
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 2.5e0
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 1.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

5-112228789-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228789
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228789
    reference: chr 5
allele count: 137
allele frequency: 8.394607843137254e-2
allele num: 1632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.392-275G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.482-5909G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.325-5909G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.352-5909G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000212643
  ensembl protein: ENSP00000375133
  ensembl transcript: ENST00000391338
  gene symbol: ZRSR1
  hgvsc: ENST00000391338.1:c.*13C>T
  variant of: http://identifiers.org/hgnc/12456
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+9288G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-5909G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.352-275G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.492-275G>A
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22724
  bin: 7.5e0
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 2.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 1.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 1.25e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34983
  bin: 2.5e0
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 1.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 1.75e1
  variant carriers: 26
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

5-112228791-TAAAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228791
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228786
    reference: chr 5
allele count: 761
allele frequency: 1.913021618903972e-1
allele num: 3978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.492-282_492-278delTTTTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.352-5916_352-5912delTTTTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-5916_213-5912delTTTTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+9281_351+9285delTTTTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.392-282_392-278delTTTTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.352-282_352-278delTTTTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.482-5916_482-5912delTTTTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.325-5916_325-5912delTTTTT
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 2.5e0
  variant carriers: 1047
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7343
  bin: 1.25e1
  variant carriers: 512
genotype depth: GenotypeDepth
  all individuals: 25218
  bin: 7.5e0
  variant carriers: 1779
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 233
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.25e1
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.25e1
  variant carriers: 119
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.75e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 6.25e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 9377
  bin: 7.5e0
  variant carriers: 295
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 139
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.25e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 24510
  bin: 2.5e0
  variant carriers: 379
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 44
num of homozygotes: 24
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: TAAAAA
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-112228791-TAAAAAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228791
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228784
    reference: chr 5
allele count: 466
allele frequency: 1.171442936148819e-1
allele num: 3978
alternate allele: T
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7343
  bin: 1.25e1
  variant carriers: 357
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 25218
  bin: 7.5e0
  variant carriers: 1403
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 2.5e0
  variant carriers: 428
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 6.25e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 9377
  bin: 7.5e0
  variant carriers: 141
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 2.25e1
  variant carriers: 151
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 6.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.75e1
  variant carriers: 101
genotype quality: GenotypeQuality
  all individuals: 24510
  bin: 2.5e0
  variant carriers: 206
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 1.75e1
  variant carriers: 260
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 1.25e1
  variant carriers: 214
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.25e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 9.75e1
  variant carriers: 554
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.25e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.75e1
  variant carriers: 61
num of homozygotes: 11
population: European (Non-Finnish)
  type: Population
  allele count: 320
  allele frequency: 1.30718954248366e-1
  allele num: 2448
  num of homozygotes: 5
population: European (Finnish)
  type: Population
  allele count: 46
  allele frequency: 1.4375e-1
  allele num: 320
  num of homozygotes: 3
population: African
  type: Population
  allele count: 22
  allele frequency: 4.782608695652174e-2
  allele num: 460
  num of homozygotes: 1
population: East Asian
  type: Population
  allele count: 3
  allele frequency: 1.54639175257732e-2
  allele num: 194
  num of homozygotes: 0
population: Latino
population: Other
population: South Asian
reference allele: TAAAAAAA
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

5-112228791-TAAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228791
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228787
    reference: chr 5
allele count: 49
allele frequency: 1.231774761186526e-2
allele num: 3978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.325-5915_325-5912delTTTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.352-5915_352-5912delTTTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-5915_213-5912delTTTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.392-281_392-278delTTTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.482-5915_482-5912delTTTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+9282_351+9285delTTTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.492-281_492-278delTTTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.352-281_352-278delTTTT
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7343
  bin: 1.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25218
  bin: 7.5e0
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 2.5e0
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 2.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 1.25e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 24510
  bin: 2.5e0
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 9377
  bin: 7.5e0
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 1.75e1
  variant carriers: 27
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: TAAAA
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

5-112228791-TAAAAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228791
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228785
    reference: chr 5
allele count: 446
allele frequency: 1.121166415284062e-1
allele num: 3978
alternate allele: T
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7343
  bin: 1.25e1
  variant carriers: 308
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 2.5e0
  variant carriers: 364
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25218
  bin: 7.5e0
  variant carriers: 1123
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.75e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.75e1
  variant carriers: 116
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 1.25e1
  variant carriers: 206
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.75e1
  variant carriers: 107
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 2.25e1
  variant carriers: 146
genotype quality: GenotypeQuality
  all individuals: 9377
  bin: 7.5e0
  variant carriers: 157
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 24510
  bin: 2.5e0
  variant carriers: 137
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 6.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 1.75e1
  variant carriers: 213
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 6.25e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.25e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.25e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 9.75e1
  variant carriers: 295
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.25e1
  variant carriers: 25
num of homozygotes: 1
population: East Asian
  type: Population
  allele count: 13
  allele frequency: 6.701030927835051e-2
  allele num: 194
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 16
  allele frequency: 8.51063829787234e-2
  allele num: 188
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 6
  allele frequency: 1.071428571428571e-1
  allele num: 56
  num of homozygotes: 0
population: African
  type: Population
  allele count: 105
  allele frequency: 2.282608695652174e-1
  allele num: 460
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: TAAAAAA
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

5-112228791-TAAAAAAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228791
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228783
    reference: chr 5
allele count: 84
allele frequency: 2.111613876319759e-2
allele num: 3978
alternate allele: T
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 2.5e0
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 7343
  bin: 1.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25218
  bin: 7.5e0
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 1.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 2.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 1.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 24510
  bin: 2.5e0
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 179
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  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 9.75e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 201
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genotype quality: GenotypeQuality
  all individuals: 142
  bin: 6.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 9377
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  variant carriers: 21
num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 4.347826086956522e-3
  allele num: 460
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 3
  allele frequency: 1.595744680851064e-2
  allele num: 188
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 2
  allele frequency: 3.571428571428571e-2
  allele num: 56
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 12
  allele frequency: 3.75e-2
  allele num: 320
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: TAAAAAAAA
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

5-112228791-TAAAAAAAAAAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228791
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228779
    reference: chr 5
allele count: 178
allele frequency: 4.474610356963298e-2
allele num: 3978
alternate allele: T
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 25218
  bin: 7.5e0
  variant carriers: 339
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 2.5e0
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 7343
  bin: 1.25e1
  variant carriers: 145
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 1.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 6.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 9377
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 1.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 24510
  bin: 2.5e0
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 2.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 9.75e1
  variant carriers: 312
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 6.25e1
  variant carriers: 9
num of homozygotes: 4
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 3.205128205128205e-3
  allele num: 312
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 11
  allele frequency: 3.4375e-2
  allele num: 320
  num of homozygotes: 0
population: African
  type: Population
  allele count: 4
  allele frequency: 8.695652173913044e-3
  allele num: 460
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 5
  allele frequency: 2.659574468085106e-2
  allele num: 188
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: TAAAAAAAAAAAA
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-112228792-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228792
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228792
    reference: chr 5
allele count: 15
allele frequency: 5.681818181818182e-2
allele num: 264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.482-5912T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.392-278T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.352-5912T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+9285T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.492-278T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.352-278T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-5912T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.325-5912T>A
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5507
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19484
  bin: 7.5e0
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 1.75e1
  variant carriers: 3
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

5-112228795-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228795
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228795
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 4988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.352-281T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.482-5915T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+9282T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.325-5915T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-5915T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.492-281T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.392-281T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.352-5915T>A
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11774
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18770
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

5-112228803-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228803
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228803
    reference: chr 5
allele count: 1
allele frequency: 4.365668383829564e-5
allele num: 22906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.492-289T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.352-289T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-5923T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.352-5923T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.392-289T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+9274T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.482-5923T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.325-5923T>A
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8709
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23780
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4850
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4212
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24854
  bin: 7.5e0
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

5-112228807-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228807
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228807
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 21146
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-5927T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.352-5927T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.325-5927T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.492-293T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.352-293T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.482-5927T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+9270T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.392-293T>C
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23981
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18772
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4826
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4076
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

5-112228808-A-AAAAAAAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228808
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228815
    reference: chr 5
allele count: 1
allele frequency: 5.064316823660488e-5
allele num: 19746
alternate allele: AAAAAAAG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24046
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18798
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23772
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4528
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3598
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

5-112228808-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228808
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228808
    reference: chr 5
allele count: 1
allele frequency: 5.064316823660488e-5
allele num: 19746
alternate allele: G
canonical: false
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24046
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18798
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5532
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4528
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3598
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23772
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2728
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10268
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 5.117707267144319e-4
  allele num: 1954
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 988
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

5-112228808-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228808
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228809
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 19746
alternate allele: AG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.352-5929_352-5928insC
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.352-295_352-294insC
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.482-5929_482-5928insC
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.392-295_392-294insC
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.325-5929_325-5928insC
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+9268_351+9269insC
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-5929_213-5928insC
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.492-295_492-294insC
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18798
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24046
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23772
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

5-112228810-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228810
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228810
    reference: chr 5
allele count: 1
allele frequency: 6.29643621710112e-5
allele num: 15882
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.325-5930T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+9267T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-5930T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.492-296T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.352-5930T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.392-296T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.482-5930T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.352-296T>C
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8251
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23932
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4710
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10852
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

5-112228812-AAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228812
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228809
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 13954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.392-301_392-299delCTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-5935_213-5933delCTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.325-5935_325-5933delCTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.352-5935_352-5933delCTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+9262_351+9264delCTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.352-301_352-299delCTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.482-5935_482-5933delCTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.492-301_492-299delCTT
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23499
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9966
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22708
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4071
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: AAAG
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

5-112228815-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228815
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228815
    reference: chr 5
allele count: 3
allele frequency: 3.151922672830427e-4
allele num: 9518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.492-301C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.352-5935C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.392-301C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.352-301C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-5935C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+9262C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.482-5935C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.325-5935C>T
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22555
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22999
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5959
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22058
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5203
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

5-112228818-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112228818
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112228818
    reference: chr 5
allele count: 1
allele frequency: 8.946144211844694e-5
allele num: 11178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.492-304A>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.482-5938A>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.392-304A>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.352-304A>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.352-5938A>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+9259A>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-5938A>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.325-5938A>G
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21648
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25687
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7808
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4784
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6863
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/5-112238039-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238039
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238039
    reference: chr 5
allele count: 40462
allele frequency: 3.520026446741135e-1
allele num: 114948
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.391+38T>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+38T>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15159T>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.351+38T>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.324+38T>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.491+38T>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.351+38T>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.481+38T>G
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 1.75e1
  variant carriers: 773
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 2.25e1
  variant carriers: 1179
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 9.25e1
  variant carriers: 379
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 4.75e1
  variant carriers: 3099
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 6.25e1
  variant carriers: 2495
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 7.5e0
  variant carriers: 854
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 3.75e1
  variant carriers: 2667
genotype depth: GenotypeDepth
  all individuals: 6699
  bin: 3.25e1
  variant carriers: 2251
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.75e1
  variant carriers: 2928
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 8.75e1
  variant carriers: 480
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 5.25e1
  variant carriers: 3215
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 2.5e0
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 6.75e1
  variant carriers: 1837
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 1.25e1
  variant carriers: 1227
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 4.25e1
  variant carriers: 2987
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.25e1
  variant carriers: 671
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 7.75e1
  variant carriers: 1025
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 2.75e1
  variant carriers: 1736
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 7.25e1
  variant carriers: 1467
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 9.75e1
  variant carriers: 2542
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 8.25e1
  variant carriers: 282
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 2.25e1
  variant carriers: 137
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.25e1
  variant carriers: 150
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.75e1
  variant carriers: 123
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 9.25e1
  variant carriers: 316
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.25e1
  variant carriers: 140
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 7.75e1
  variant carriers: 282
num of homozygotes: 7546
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

5-112238048-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238048
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238048
    reference: chr 5
allele count: 1
allele frequency: 8.659208202002008e-6
allele num: 115484
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.324+29C>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+29C>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.351+29C>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15168C>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.391+29C>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.351+29C>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.491+29C>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.481+29C>G
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3755
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5434
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9725
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-112238050-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238050
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238050
    reference: chr 5
allele count: 12
allele frequency: 1.038547418344209e-4
allele num: 115546
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.391+27C>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.351+27C>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+27C>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.324+27C>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.481+27C>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.491+27C>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.351+27C>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15170C>G
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9997
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7149
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4616
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

5-112238059-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238059
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238059
    reference: chr 5
allele count: 1
allele frequency: 8.631851532153647e-6
allele num: 115850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.481+18C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.351+18C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.351+18C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+18C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15179C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.391+18C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.324+18C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.491+18C>T
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8459
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21918
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2741
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

5-112238063-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238063
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238063
    reference: chr 5
allele count: 2
allele frequency: 1.723335688558774e-5
allele num: 116054
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.391+14G>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.491+14G>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.481+14G>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+14G>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.324+14G>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.351+14G>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.351+14G>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15183G>C
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3753
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10524
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

5-112238076-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238076
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238076
    reference: chr 5
allele count: 1
allele frequency: 8.507452528414892e-6
allele num: 117544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.491+1G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.351+1G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.351+1G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.391+1G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.351+1G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.481+1G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15196G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.324+1G>A
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4496
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11755
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 2.25e1
  variant carriers: 0
hgvs: c.351+1G>A
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

5-112238080-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238080
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238080
    reference: chr 5
allele count: 1
allele frequency: 8.470986869970351e-6
allele num: 118050
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.388G>C
  hgvsp: ENST00000511865.2:c.388G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.348G>C
  hgvsp: ENST00000379638.4:c.348G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.321G>C
  hgvsp: ENST00000261482.4:c.321G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.348G>C
  hgvsp: ENST00000513339.1:c.348G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.478G>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.348G>C
  hgvsp: ENST00000545426.1:c.348G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.488G>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15200G>C
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21921
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu116Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

5-112238081-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238081
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238081
    reference: chr 5
allele count: 1
allele frequency: 8.460666362082677e-6
allele num: 118194
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.347T>C
  hgvsp: ENSP00000368959.4:p.Leu116Pro
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.487T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.387T>C
  hgvsp: ENSP00000421305.2:p.Leu130Pro
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15201T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.477T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.347T>C
  hgvsp: ENSP00000425901.1:p.Leu116Pro
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.320T>C
  hgvsp: ENSP00000261482.4:p.Leu107Pro
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.347T>C
  hgvsp: ENSP00000442940.1:p.Leu116Pro
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu116Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

5-112238083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238083
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238083
    reference: chr 5
allele count: 2
allele frequency: 1.689274794330794e-5
allele num: 118394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15203G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.345G>A
  hgvsp: ENSP00000368959.4:p.Met115Ile
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.318G>A
  hgvsp: ENSP00000261482.4:p.Met106Ile
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.385G>A
  hgvsp: ENSP00000421305.2:p.Met129Ile
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.475G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.345G>A
  hgvsp: ENSP00000442940.1:p.Met115Ile
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.345G>A
  hgvsp: ENSP00000425901.1:p.Met115Ile
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.485G>A
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4497
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met115Ile
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

5-112238086-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238086
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238086
    reference: chr 5
allele count: 1
allele frequency: 8.412976174451474e-6
allele num: 118864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.482C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.472C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.342C>T
  hgvsp: ENST00000379638.4:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.382C>T
  hgvsp: ENST00000511865.2:c.382C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.315C>T
  hgvsp: ENST00000261482.4:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.342C>T
  hgvsp: ENST00000545426.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15206C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.342C>T
  hgvsp: ENST00000513339.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12773
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr114Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

5-112238087-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238087
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238087
    reference: chr 5
allele count: 1
allele frequency: 8.406893652795292e-6
allele num: 118950
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.341A>G
  hgvsp: ENSP00000368959.4:p.Tyr114Cys
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.341A>G
  hgvsp: ENSP00000425901.1:p.Tyr114Cys
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.341A>G
  hgvsp: ENSP00000442940.1:p.Tyr114Cys
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.381A>G
  hgvsp: ENSP00000421305.2:p.Tyr128Cys
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.314A>G
  hgvsp: ENSP00000261482.4:p.Tyr105Cys
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.481A>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15207A>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.471A>G
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8972
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr114Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-112238110-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238110
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238110
    reference: chr 5
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.318C>T
  hgvsp: ENST00000545426.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.358C>T
  hgvsp: ENST00000511865.2:c.358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15230C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.318C>T
  hgvsp: ENST00000513339.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.291C>T
  hgvsp: ENST00000261482.4:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.318C>T
  hgvsp: ENST00000379638.4:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.458C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.448C>T
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2806
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe106Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

5-112238114-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238114
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238114
    reference: chr 5
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.287T>C
  hgvsp: ENSP00000261482.4:p.Ile96Thr
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.314T>C
  hgvsp: ENSP00000368959.4:p.Ile105Thr
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.454T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.314T>C
  hgvsp: ENSP00000425901.1:p.Ile105Thr
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.444T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.354T>C
  hgvsp: ENSP00000421305.2:p.Ile119Thr
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.314T>C
  hgvsp: ENSP00000442940.1:p.Ile105Thr
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15234T>C
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21919
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4511
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4655
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile105Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

5-112238126-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238126
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238126
    reference: chr 5
allele count: 1
allele frequency: 8.270067318347971e-6
allele num: 120918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.275T>A
  hgvsp: ENSP00000261482.4:p.Phe92Tyr
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.302T>A
  hgvsp: ENSP00000442940.1:p.Phe101Tyr
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.342T>A
  hgvsp: ENSP00000421305.2:p.Phe115Tyr
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.442T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15246T>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.302T>A
  hgvsp: ENSP00000425901.1:p.Phe101Tyr
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.302T>A
  hgvsp: ENSP00000368959.4:p.Phe101Tyr
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.432T>A
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe101Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

5-112238140-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238140
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238140
    reference: chr 5
allele count: 1
allele frequency: 8.267742575567167e-6
allele num: 120952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.261C>T
  hgvsp: ENST00000261482.4:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.288C>T
  hgvsp: ENST00000545426.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.418C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.288C>T
  hgvsp: ENST00000379638.4:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.288C>T
  hgvsp: ENST00000513339.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.328C>T
  hgvsp: ENST00000511865.2:c.328C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.428C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15260C>T
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4502
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5747
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe96Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

5-112238143-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238143
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238143
    reference: chr 5
allele count: 2
allele frequency: 1.653603201375798e-5
allele num: 120948
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.285G>A
  hgvsp: ENST00000379638.4:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.258G>A
  hgvsp: ENST00000261482.4:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.415G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.285G>A
  hgvsp: ENST00000545426.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.425G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.285G>A
  hgvsp: ENST00000513339.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.325G>A
  hgvsp: ENST00000511865.2:c.325G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15263G>A
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5746
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val95Val
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

5-112238145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238145
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238145
    reference: chr 5
allele count: 1
allele frequency: 8.26801600687899e-6
allele num: 120948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.256G>A
  hgvsp: ENSP00000261482.4:p.Val86Met
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.283G>A
  hgvsp: ENSP00000442940.1:p.Val95Met
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.423G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.283G>A
  hgvsp: ENSP00000425901.1:p.Val95Met
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.323G>A
  hgvsp: ENSP00000421305.2:p.Val109Met
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15265G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.283G>A
  hgvsp: ENSP00000368959.4:p.Val95Met
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.413G>A
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9692
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21913
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val95Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

5-112238150-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238150
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238150
    reference: chr 5
allele count: 6
allele frequency: 4.961465947805378e-5
allele num: 120932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.278A>G
  hgvsp: ENSP00000442940.1:p.Tyr93Cys
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.418A>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15270A>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.251A>G
  hgvsp: ENSP00000261482.4:p.Tyr84Cys
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.278A>G
  hgvsp: ENSP00000368959.4:p.Tyr93Cys
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.318A>G
  hgvsp: ENSP00000421305.2:p.Tyr107Cys
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.408A>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.278A>G
  hgvsp: ENSP00000425901.1:p.Tyr93Cys
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9717
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10213
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr93Cys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

5-112238169-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238169
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238169
    reference: chr 5
allele count: 3
allele frequency: 2.489254717137689e-5
allele num: 120518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.232C>A
  hgvsp: ENSP00000261482.4:p.Leu78Met
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.259C>A
  hgvsp: ENSP00000442940.1:p.Leu87Met
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.259C>A
  hgvsp: ENSP00000368959.4:p.Leu87Met
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.389C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15289C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.299C>A
  hgvsp: ENSP00000421305.2:p.Leu101Met
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.259C>A
  hgvsp: ENSP00000425901.1:p.Leu87Met
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.399C>A
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu87Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

5-112238177-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238177
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238177
    reference: chr 5
allele count: 1
allele frequency: 8.319882856049386e-6
allele num: 120194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.381C>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.391C>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.251C>G
  hgvsp: ENSP00000368959.4:p.Thr84Ser
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.251C>G
  hgvsp: ENSP00000425901.1:p.Thr84Ser
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.224C>G
  hgvsp: ENSP00000261482.4:p.Thr75Ser
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15297C>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.251C>G
  hgvsp: ENSP00000442940.1:p.Thr84Ser
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.291C>G
  hgvsp: ENSP00000421305.2:p.Thr98Ser
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13739
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr84Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

5-112238178-TATC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238178
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238175
    reference: chr 5
allele count: 1
allele frequency: 8.326949338840222e-6
allele num: 120092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.220_222delGAT
  hgvsp: ENSP00000261482.4:p.Asp74del
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15301_213-15299delGAT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.247_249delGAT
  hgvsp: ENSP00000425901.1:p.Asp83del
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.287_289delGAT
  hgvsp: ENSP00000421305.2:p.Asp97del
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.247_249delGAT
  hgvsp: ENSP00000442940.1:p.Asp83del
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.387_389delGAT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.247_249delGAT
  hgvsp: ENSP00000368959.4:p.Asp83del
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.377_379delGAT
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21907
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5706
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4496
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp83del
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TATC
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

5-112238181-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238181
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238181
    reference: chr 5
allele count: 1
allele frequency: 8.338614455822021e-6
allele num: 119924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.247G>C
  hgvsp: ENSP00000442940.1:p.Asp83His
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.377G>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.387G>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.247G>C
  hgvsp: ENSP00000368959.4:p.Asp83His
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.247G>C
  hgvsp: ENSP00000425901.1:p.Asp83His
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.220G>C
  hgvsp: ENSP00000261482.4:p.Asp74His
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.287G>C
  hgvsp: ENSP00000421305.2:p.Asp97His
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15301G>C
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13397
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp83His
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

5-112238181-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238181
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238181
    reference: chr 5
allele count: 1
allele frequency: 8.338614455822021e-6
allele num: 119924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.387G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.377G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.220G>A
  hgvsp: ENSP00000261482.4:p.Asp74Asn
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.247G>A
  hgvsp: ENSP00000368959.4:p.Asp83Asn
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.247G>A
  hgvsp: ENSP00000442940.1:p.Asp83Asn
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.247G>A
  hgvsp: ENSP00000425901.1:p.Asp83Asn
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.287G>A
  hgvsp: ENSP00000421305.2:p.Asp97Asn
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15301G>A
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4631
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp83Asn
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/5-112238184-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238184
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238184
    reference: chr 5
allele count: 1
allele frequency: 8.352125615969264e-6
allele num: 119730
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.244G>T
  hgvsp: ENSP00000368959.4:p.Asp82Tyr
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.217G>T
  hgvsp: ENSP00000261482.4:p.Asp73Tyr
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.384G>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15304G>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.244G>T
  hgvsp: ENSP00000425901.1:p.Asp82Tyr
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.284G>T
  hgvsp: ENSP00000421305.2:p.Asp96Tyr
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.244G>T
  hgvsp: ENSP00000442940.1:p.Asp82Tyr
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.374G>T
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8696
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4492
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4625
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp82Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

5-112238185-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238185
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238185
    reference: chr 5
allele count: 1
allele frequency: 8.357151214294072e-6
allele num: 119658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.383A>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.243A>C
  hgvsp: ENSP00000442940.1:p.Glu81Asp
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.243A>C
  hgvsp: ENSP00000425901.1:p.Glu81Asp
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.283A>C
  hgvsp: ENSP00000421305.2:p.Glu95Asp
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.216A>C
  hgvsp: ENSP00000261482.4:p.Glu72Asp
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.243A>C
  hgvsp: ENSP00000368959.4:p.Glu81Asp
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15305A>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.373A>C
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5661
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu81Asp
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

5-112238191-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238191
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238191
    reference: chr 5
allele count: 17
allele frequency: 1.425791733762748e-4
allele num: 119232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.367C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.237C>T
  hgvsp: ENST00000379638.4:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.377C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.237C>T
  hgvsp: ENST00000545426.1:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.210C>T
  hgvsp: ENST00000261482.4:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.237C>T
  hgvsp: ENST00000513339.1:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15311C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.277C>T
  hgvsp: ENST00000511865.2:c.277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn79Asn
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

5-112238192-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238192
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238192
    reference: chr 5
allele count: 2
allele frequency: 1.678612794386719e-5
allele num: 119146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.236A>T
  hgvsp: ENSP00000442940.1:p.Asn79Ile
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.376A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.209A>T
  hgvsp: ENSP00000261482.4:p.Asn70Ile
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.236A>T
  hgvsp: ENSP00000368959.4:p.Asn79Ile
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.276A>T
  hgvsp: ENSP00000421305.2:p.Asn93Ile
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.366A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15312A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.236A>T
  hgvsp: ENSP00000425901.1:p.Asn79Ile
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn79Ile
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

5-112238192-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238192
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238192
    reference: chr 5
allele count: 3
allele frequency: 2.517919191580078e-5
allele num: 119146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.376A>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.236A>G
  hgvsp: ENSP00000368959.4:p.Asn79Ser
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15312A>G
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.236A>G
  hgvsp: ENSP00000425901.1:p.Asn79Ser
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.209A>G
  hgvsp: ENSP00000261482.4:p.Asn70Ser
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.276A>G
  hgvsp: ENSP00000421305.2:p.Asn93Ser
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.236A>G
  hgvsp: ENSP00000442940.1:p.Asn79Ser
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.366A>G
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21898
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn79Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

5-112238201-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238201
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238201
    reference: chr 5
allele count: 12
allele frequency: 1.015623677573336e-4
allele num: 118154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15321A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.357A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.227A>T
  hgvsp: ENSP00000368959.4:p.Glu76Val
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.227A>T
  hgvsp: ENSP00000442940.1:p.Glu76Val
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.267A>T
  hgvsp: ENSP00000421305.2:p.Glu90Val
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.367A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.200A>T
  hgvsp: ENSP00000261482.4:p.Glu67Val
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.227A>T
  hgvsp: ENSP00000425901.1:p.Glu76Val
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8697
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu76Val
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

5-112238219-AAAGGCAGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238219
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238211
    reference: chr 5
allele count: 1
allele frequency: 8.587229072922749e-6
allele num: 116452
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.213-12_213-5delACTGCCTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.343-12_343-5delACTGCCTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.253-12_253-5delACTGCCTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.213-12_213-5delACTGCCTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.186-12_186-5delACTGCCTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.213-12_213-5delACTGCCTT
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.353-12_353-5delACTGCCTT
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
hgvs: c.213-12_213-5delACTGCCTT
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: AAAGGCAGT
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

5-112238229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238229
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238229
    reference: chr 5
allele count: 1
allele frequency: 8.667163584045485e-6
allele num: 115378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.253-14G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.213-14G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.213-14G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.343-14G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.353-14G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15349G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.213-14G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.186-14G>A
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8691
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3996
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

5-112238240-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238240
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238240
    reference: chr 5
allele count: 1
allele frequency: 8.732556717955883e-6
allele num: 114514
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.213-25T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.186-25T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.353-25T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.343-25T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.213-25T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.213-25T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15360T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.253-25T>C
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21894
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5433
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4592
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-112238253-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238253
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238253
    reference: chr 5
allele count: 1
allele frequency: 8.84830466482622e-6
allele num: 113016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.213-38T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.213-38T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.253-38T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.343-38T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15373T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.186-38T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.213-38T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.353-38T>C
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21886
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

5-112238257-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238257
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238257
    reference: chr 5
allele count: 4
allele frequency: 3.553723413706711e-5
allele num: 112558
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.213-42T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.253-42T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.186-42T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.353-42T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15377T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.213-42T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.343-42T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.213-42T>C
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4465
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3756
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4548
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

5-112238258-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238258
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238258
    reference: chr 5
allele count: 1
allele frequency: 8.895530885283234e-6
allele num: 112416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.213-43A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15378A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.253-43A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.213-43A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.353-43A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.213-43A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.343-43A>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.186-43A>T
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5188
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/5-112238259-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238259
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238259
    reference: chr 5
allele count: 1
allele frequency: 8.90694028787231e-6
allele num: 112272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15379G>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.186-44G>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.213-44G>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.353-44G>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.213-44G>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.343-44G>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.213-44G>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.253-44G>T
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7574
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum

5-112238261-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112238261
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112238261
    reference: chr 5
allele count: 9
allele frequency: 8.024394158241052e-5
allele num: 112158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.343-46T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.253-46T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.186-46T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.213-46T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.213-15381T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.213-46T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.213-46T>C
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.353-46T>C
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9515
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8586
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21884
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3749
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

5-112256809-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112256809
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112256810
    reference: chr 5
allele count: 10
allele frequency: 9.871863215463287e-5
allele num: 101298
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.212+50dupC
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.352+50dupC
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.342+50dupC
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.185+50dupC
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.212+50dupC
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.212+50dupC
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.212+50dupC
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.252+50dupC
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9451
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15801
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14179
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6709
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

5-112256809-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112256809
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112256809
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 101298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.185+51G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.252+51G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.342+51G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.212+51G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.212+51G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.352+51G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.212+51G>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.212+51G>A
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15801
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6709
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

5-112256810-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112256810
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112256810
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 102356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.185+50C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.212+50C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.352+50C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.212+50C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.212+50C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.252+50C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.342+50C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.212+50C>T
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13855
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3287
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7004
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

5-112256810-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112256810
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112256810
    reference: chr 5
allele count: 17
allele frequency: 1.660869905037321e-4
allele num: 102356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.212+50C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.212+50C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.185+50C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.352+50C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.212+50C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.252+50C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.342+50C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.212+50C>A
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13855
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15720
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9750
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3287
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6753
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3919
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 3909
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

5-112256811-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112256811
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112256811
    reference: chr 5
allele count: 1
allele frequency: 9.536343003185138e-6
allele num: 104862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.352+49C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.252+49C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.212+49C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.185+49C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.212+49C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.342+49C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.212+49C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.212+49C>T
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13569
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7154
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

5-112256811-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112256811
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112256811
    reference: chr 5
allele count: 8
allele frequency: 7.629074402548111e-5
allele num: 104862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.185+49C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.212+49C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.212+49C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.212+49C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.352+49C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.212+49C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.342+49C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.252+49C>A
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9979
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6914
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

5-112256812-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112256812
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112256812
    reference: chr 5
allele count: 8
allele frequency: 7.623694442326752e-5
allele num: 104936
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.342+48C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.212+48C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.185+48C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.212+48C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.252+48C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.212+48C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.352+48C>A
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.212+48C>A
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10062
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6895
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6432
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13434
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15675
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3211
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3889
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3946
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 6958
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

5-112256813-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112256813
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 112256813
    reference: chr 5
allele count: 1
allele frequency: 9.603195943610034e-6
allele num: 104132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000474542
  gene symbol: REEP5
  hgvsc: ENST00000474542.2:n.342+47C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl transcript: ENST00000497856
  gene symbol: REEP5
  hgvsc: ENST00000497856.2:n.352+47C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000425901
  ensembl transcript: ENST00000513339
  gene symbol: REEP5
  hgvsc: ENST00000513339.1:c.212+47C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421305
  ensembl transcript: ENST00000511865
  gene symbol: REEP5
  hgvsc: ENST00000511865.2:c.252+47C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000442940
  ensembl transcript: ENST00000545426
  gene symbol: REEP5
  hgvsc: ENST00000545426.1:c.212+47C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000421881
  ensembl transcript: ENST00000504247
  gene symbol: REEP5
  hgvsc: ENST00000504247.1:c.212+47C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000368959
  ensembl transcript: ENST00000379638
  gene symbol: REEP5
  hgvsc: ENST00000379638.4:c.212+47C>T
  variant of: http://identifiers.org/hgnc/30077
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129625
  ensembl protein: ENSP00000261482
  ensembl transcript: ENST00000261482
  gene symbol: REEP5
  hgvsc: ENST00000261482.4:c.185+47C>T
  variant of: http://identifiers.org/hgnc/30077
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15612
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3937
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7087
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3206
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G

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

GenotypeQuality
all individuals: 998
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1870
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34328
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2361
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2104
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2908
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3082
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 79
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.493875112040633e-4
allele num: 6694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.479912707072711e-5
allele num: 40324
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.124087591240875e-5
allele num: 10960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3916
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.1693e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.45e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.116e0

MQRankSum
type: SiteQuality
SIO_000300: -1.735e0

DP
type: SiteQuality
SIO_000300: 7.50813e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.149e0

QD
type: SiteQuality
SIO_000300: 3.6e-1

MQ
type: SiteQuality
SIO_000300: 5.469e1

GenotypeQuality
all individuals: 123
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3391
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2933
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35625
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 108
bin: 9.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7038
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

DP
type: SiteQuality
SIO_000300: 7.38665e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.82e-2

QD
type: SiteQuality
SIO_000300: 5.68e0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15912
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 4.464285714285714e-4
allele num: 4480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.780626780626781e-4
allele num: 28080
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3832
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.501501501501501e-4
allele num: 6660
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.148689299527288e-4
allele num: 4654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.620564808110065e-4
allele num: 2762
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.45e1

QD
type: SiteQuality
SIO_000300: 5.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.270000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.908e0

FS
type: SiteQuality
SIO_000300: 4.0955e1

DP
type: SiteQuality
SIO_000300: 6.90204e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.286e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.924030764401193e-5
allele num: 25484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4096
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.090234857849196e-4
allele num: 3236
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.393e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.41e-2

DP
type: SiteQuality
SIO_000300: 6.32102e5

MQRankSum
type: SiteQuality
SIO_000300: -1.495e0

VQSLOD
type: SiteQuality
SIO_000300: -1.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.336e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.738e0

QD
type: SiteQuality
SIO_000300: 3.9e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.422821760283061e-5
allele num: 22610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3748
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3374
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.67e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

QD
type: SiteQuality
SIO_000300: 7.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.493e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQ
type: SiteQuality
SIO_000300: 5.59e1

DP
type: SiteQuality
SIO_000300: 6.17252e5

FS
type: SiteQuality
SIO_000300: 1.0575e1

GenotypeQuality
all individuals: 3385
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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: 18
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GenotypeQuality
all individuals: 62
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2956
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2034
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16864
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.382120946538125e-4
allele num: 2282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2044
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.487e1

DP
type: SiteQuality
SIO_000300: 5.92527e5

VQSLOD
type: SiteQuality
SIO_000300: -3.154e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 4.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

GenotypeQuality
all individuals: 244
bin: 2.75e1
variant carriers: 10

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 8

GenotypeQuality
all individuals: 66
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variant carriers: 6

GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 16

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 25
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variant carriers: 13

GenotypeQuality
all individuals: 37
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GenotypeQuality
all individuals: 16
bin: 8.25e1
variant carriers: 3

Other
type: Population
allele count: 1
allele frequency: 2.380952380952381e-2
allele num: 42
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.146788990825688e-2
allele num: 872
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 2.91970802919708e-2
allele num: 274
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 4.330708661417323e-2
allele num: 254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 18
allele frequency: 4.390243902439024e-2
allele num: 410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 50
allele frequency: 1.500600240096038e-2
allele num: 3332
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 6.4e-2
allele num: 250
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.45e0

VQSLOD
type: SiteQuality
SIO_000300: -5.632e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 5.312e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.737e0

MQRankSum
type: SiteQuality
SIO_000300: -1.076e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

FS
type: SiteQuality
SIO_000300: 5.8676e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.813e-1

DP
type: SiteQuality
SIO_000300: 5.28854e5

GenotypeQuality
all individuals: 25
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 31
bin: 7.25e1
variant carriers: 13

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 22

GenotypeQuality
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GenotypeQuality
all individuals: 109
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 18

GenotypeQuality
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 68
bin: 9.75e1
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GenotypeQuality
all individuals: 19
bin: 7.75e1
variant carriers: 6

African
type: Population
allele count: 2
allele frequency: 8.333333333333333e-3
allele num: 240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.31578947368421e-2
allele num: 76
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.851851851851852e-2
allele num: 54
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 1.552795031055901e-2
allele num: 966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.0e-2
allele num: 20
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.395e1

QD
type: SiteQuality
SIO_000300: 3.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.163e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 4.80185e5

VQSLOD
type: SiteQuality
SIO_000300: -1.814e0

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 5.0364e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

GenotypeQuality
all individuals: 404
bin: 2.25e1
variant carriers: 21

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 19

GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 8255
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GenotypeQuality
all individuals: 124
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GenotypeQuality
all individuals: 109
bin: 3.25e1
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GenotypeQuality
all individuals: 31
bin: 7.25e1
variant carriers: 16

GenotypeQuality
all individuals: 31
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GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 68
bin: 9.75e1
variant carriers: 48

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 15

African
type: Population
allele count: 10
allele frequency: 4.166666666666666e-2
allele num: 240
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 8.181818181818182e-2
allele num: 110
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 2.105263157894737e-1
allele num: 76
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 24
allele frequency: 1.44578313253012e-1
allele num: 166
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 1.5e-1
allele num: 20
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 63
allele frequency: 6.521739130434782e-2
allele num: 966
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 2.222222222222222e-1
allele num: 54
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.395e1

VQSLOD
type: SiteQuality
SIO_000300: -1.814e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

FS
type: SiteQuality
SIO_000300: 5.0364e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.163e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 4.80185e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 3.52e0

GenotypeQuality
all individuals: 424
bin: 2.75e1
variant carriers: 153

GenotypeQuality
all individuals: 252
bin: 4.75e1
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GenotypeQuality
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variant carriers: 583

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 969
bin: 2.25e1
variant carriers: 276

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 85

GenotypeQuality
all individuals: 142
bin: 6.75e1
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GenotypeQuality
all individuals: 1982
bin: 1.75e1
variant carriers: 440

GenotypeQuality
all individuals: 326
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GenotypeQuality
all individuals: 149
bin: 8.25e1
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GenotypeQuality
all individuals: 1648
bin: 9.75e1
variant carriers: 506

GenotypeQuality
all individuals: 179
bin: 7.25e1
variant carriers: 96

European (Non-Finnish)
type: Population
allele count: 445
allele frequency: 1.81781045751634e-1
allele num: 2448
num of homozygotes: 13

Other
type: Population
allele count: 10
allele frequency: 1.785714285714286e-1
allele num: 56
num of homozygotes: 0

East Asian
type: Population
allele count: 26
allele frequency: 1.34020618556701e-1
allele num: 194
num of homozygotes: 1

Latino
type: Population
allele count: 22
allele frequency: 1.170212765957447e-1
allele num: 188
num of homozygotes: 0

African
type: Population
allele count: 168
allele frequency: 3.652173913043478e-1
allele num: 460
num of homozygotes: 8

European (Finnish)
type: Population
allele count: 68
allele frequency: 2.125e-1
allele num: 320
num of homozygotes: 2

South Asian
type: Population
allele count: 22
allele frequency: 7.051282051282051e-2
allele num: 312
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.065e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 2.7832e1

DP
type: SiteQuality
SIO_000300: 3.75632e5

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 8.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

Latino
type: Population
allele count: 11
allele frequency: 5.851063829787234e-2
allele num: 188
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 1.25e-1
allele num: 56
num of homozygotes: 1

South Asian
type: Population
allele count: 57
allele frequency: 1.826923076923077e-1
allele num: 312
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 3.75632e5

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.35e-1

FS
type: SiteQuality
SIO_000300: 2.7832e1

QD
type: SiteQuality
SIO_000300: 8.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQ
type: SiteQuality
SIO_000300: 5.065e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 252
bin: 4.75e1
variant carriers: 9

GenotypeQuality
all individuals: 205
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 142
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 174
bin: 7.75e1
variant carriers: 9

GenotypeQuality
all individuals: 201
bin: 6.25e1
variant carriers: 11

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 11

GenotypeQuality
all individuals: 1648
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 285
bin: 3.75e1
variant carriers: 20

GenotypeQuality
all individuals: 179
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 424
bin: 2.75e1
variant carriers: 14

GenotypeQuality
all individuals: 326
bin: 3.25e1
variant carriers: 16

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 2

African
type: Population
allele count: 16
allele frequency: 3.478260869565217e-2
allele num: 460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 6.25e-3
allele num: 320
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 4.639175257731959e-2
allele num: 194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 6.944444444444444e-3
allele num: 2448
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 2.127659574468085e-2
allele num: 188
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.785714285714286e-2
allele num: 56
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 8.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 3.75632e5

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 2.7832e1

MQ
type: SiteQuality
SIO_000300: 5.065e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.35e-1

European (Non-Finnish)
type: Population
allele count: 238
allele frequency: 9.722222222222222e-2
allele num: 2448
num of homozygotes: 0

South Asian
type: Population
allele count: 23
allele frequency: 7.371794871794872e-2
allele num: 312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 45
allele frequency: 1.40625e-1
allele num: 320
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

DP
type: SiteQuality
SIO_000300: 3.75632e5

MQ
type: SiteQuality
SIO_000300: 5.065e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 8.74e0

FS
type: SiteQuality
SIO_000300: 2.7832e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

European (Non-Finnish)
type: Population
allele count: 55
allele frequency: 2.246732026143791e-2
allele num: 2448
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.154639175257732e-3
allele num: 194
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 2.884615384615385e-2
allele num: 312
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 8.74e0

MQ
type: SiteQuality
SIO_000300: 5.065e1

FS
type: SiteQuality
SIO_000300: 2.7832e1

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 3.75632e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

European (Non-Finnish)
type: Population
allele count: 155
allele frequency: 6.331699346405228e-2
allele num: 2448
num of homozygotes: 4

Other
type: Population
allele count: 2
allele frequency: 3.571428571428571e-2
allele num: 56
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.74e0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

FS
type: SiteQuality
SIO_000300: 2.7832e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.065e1

DP
type: SiteQuality
SIO_000300: 3.75632e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

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

GenotypeQuality
all individuals: 80
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 29446
bin: 2.5e0
variant carriers: 5

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7
bin: 6.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 14
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 3628
bin: 7.5e0
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 6.976744186046512e-2
allele num: 172
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 5.555555555555555e-2
allele num: 18
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.111111111111111e-1
allele num: 18
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

FS
type: SiteQuality
SIO_000300: 2.3936e1

VQSLOD
type: SiteQuality
SIO_000300: 1.512e1

MQ
type: SiteQuality
SIO_000300: 5.662e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.532e-1

QD
type: SiteQuality
SIO_000300: 9.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.98506e5

GenotypeQuality
all individuals: 1601
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18292
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12606
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2536
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.042e0

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.415e-1

MQ
type: SiteQuality
SIO_000300: 4.729e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

QD
type: SiteQuality
SIO_000300: 2.793e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 3.0044e5

GenotypeQuality
all individuals: 476
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14421
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1574
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 106
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2072
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.409014463504877e-5
allele num: 11892
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2048
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.92e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.768000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

MQ
type: SiteQuality
SIO_000300: 4.065e1

FS
type: SiteQuality
SIO_000300: 3.5773e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 4.067e5

QD
type: SiteQuality
SIO_000300: 2.591e1

GenotypeQuality
all individuals: 607
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24627
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13631
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1042
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2066
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.899e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.21e-2

QD
type: SiteQuality
SIO_000300: 7.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 4.10972e5

GenotypeQuality
all individuals: 86
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5532
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 5.117707267144319e-4
allele num: 1954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1800
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.826e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-1

FS
type: SiteQuality
SIO_000300: 1.1863e1

MQ
type: SiteQuality
SIO_000300: 5.604e1

QD
type: SiteQuality
SIO_000300: 7.4e0

DP
type: SiteQuality
SIO_000300: 4.10834e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 4.10834e5

QD
type: SiteQuality
SIO_000300: 7.4e0

FS
type: SiteQuality
SIO_000300: 1.1863e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.826e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 5.604e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-1

GenotypeQuality
all individuals: 4528
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13244
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 82
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5532
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3598
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1954
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.10834e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-1

MQ
type: SiteQuality
SIO_000300: 5.604e1

FS
type: SiteQuality
SIO_000300: 1.1863e1

VQSLOD
type: SiteQuality
SIO_000300: -5.826e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 7.4e0

GenotypeQuality
all individuals: 8868
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3949
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22684
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2222
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 7.215007215007215e-4
allele num: 1386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1548
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.02e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

DP
type: SiteQuality
SIO_000300: 4.00099e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.541e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 64
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4873
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9485
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1762
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.29e-2

QD
type: SiteQuality
SIO_000300: 6.57e0

DP
type: SiteQuality
SIO_000300: 3.83127e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.026e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.96e-1

MQ
type: SiteQuality
SIO_000300: 5.465e1

GenotypeQuality
all individuals: 13561
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3722
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7084
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.25e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1138
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 974
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.731753916698509e-4
allele num: 5234
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

FS
type: SiteQuality
SIO_000300: 1.03837e2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.011e-1

DP
type: SiteQuality
SIO_000300: 3.46899e5

MQ
type: SiteQuality
SIO_000300: 4.996e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.657e1

GenotypeQuality
all individuals: 118
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 25109
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6405
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1436
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.225092250922509e-4
allele num: 1084
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.92e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 5.395e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.216e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 3.18703e5

GenotypeQuality
all individuals: 2613
bin: 6.75e1
variant carriers: 170

GenotypeQuality
all individuals: 337
bin: 2.5e0
variant carriers: 17

GenotypeQuality
all individuals: 287
bin: 7.5e0
variant carriers: 32

GenotypeQuality
all individuals: 256
bin: 1.75e1
variant carriers: 102

GenotypeQuality
all individuals: 4509
bin: 6.25e1
variant carriers: 148

GenotypeQuality
all individuals: 412
bin: 2.75e1
variant carriers: 72

GenotypeQuality
all individuals: 200
bin: 4.25e1
variant carriers: 94

GenotypeQuality
all individuals: 306
bin: 4.75e1
variant carriers: 153

GenotypeQuality
all individuals: 1170
bin: 8.75e1
variant carriers: 205

GenotypeQuality
all individuals: 1428
bin: 7.25e1
variant carriers: 180

GenotypeQuality
all individuals: 39723
bin: 9.75e1
variant carriers: 31156

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 72

Latino
type: Population
allele count: 3361
allele frequency: 2.920576989920056e-1
allele num: 11508
num of homozygotes: 508

European (Finnish)
type: Population
allele count: 2459
allele frequency: 3.72688693543498e-1
allele num: 6598
num of homozygotes: 447

European (Non-Finnish)
type: Population
allele count: 21661
allele frequency: 3.330821749292656e-1
allele num: 65032
num of homozygotes: 3674

African
type: Population
allele count: 6205
allele frequency: 6.013762357045939e-1
allele num: 10318
num of homozygotes: 1876

South Asian
type: Population
allele count: 3639
allele frequency: 3.019415864586791e-1
allele num: 12052
num of homozygotes: 526

Other
type: Population
allele count: 280
allele frequency: 3.32541567695962e-1
allele num: 842
num of homozygotes: 55

East Asian
type: Population
allele count: 2857
allele frequency: 3.322865782740172e-1
allele num: 8598
num of homozygotes: 460

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.25e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

DP
type: SiteQuality
SIO_000300: 2.787698e6

FS
type: SiteQuality
SIO_000300: 6.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

QD
type: SiteQuality
SIO_000300: 1.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
all individuals: 188
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 162
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2267
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4618
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21913
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533130960046607e-5
allele num: 65226
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
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: 850
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12302
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 5.868e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

QD
type: SiteQuality
SIO_000300: 1.158e1

VQSLOD
type: SiteQuality
SIO_000300: 9.51e-1

DP
type: SiteQuality
SIO_000300: 2.377714e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

GenotypeQuality
all individuals: 2734
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3754
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4478
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2394
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21917
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 5445
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9822
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65242
num of homozygotes: 0

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

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

African
type: Population
allele count: 12
allele frequency: 1.160766105629716e-3
allele num: 10338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12346
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.316e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

FS
type: SiteQuality
SIO_000300: 6.06e-1

DP
type: SiteQuality
SIO_000300: 2.379114e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

GenotypeQuality
all individuals: 174
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 698
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3756
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4484
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4617
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2437
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
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: 1.530877805333578e-5
allele num: 65322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12556
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.427e0

DP
type: SiteQuality
SIO_000300: 2.385371e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.141e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

QD
type: SiteQuality
SIO_000300: 1.455e1

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

GenotypeQuality
all individuals: 4632
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2746
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21915
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2269
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4483
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12678
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.933861922258751e-4
allele num: 10342
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.836e1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
type: SiteQuality
SIO_000300: 2.389915e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

FS
type: SiteQuality
SIO_000300: 1.27e1

VQSLOD
type: SiteQuality
SIO_000300: -1.728e0

QD
type: SiteQuality
SIO_000300: 1.128e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.521097624045511e-5
allele num: 65742
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8646
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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.455e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.43e-1

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.166e0

DP
type: SiteQuality
SIO_000300: 2.407905e6

MQ
type: SiteQuality
SIO_000300: 5.879e1

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.518649009840846e-5
allele num: 65848
num of homozygotes: 0

African
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.413755e6

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

FS
type: SiteQuality
SIO_000300: 1.091e0

VQSLOD
type: SiteQuality
SIO_000300: 3.45e-1

QD
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SIO_000300: 9.960000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.517957436473481e-5
allele num: 65878
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11550
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 4.8e-3

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.93e-1

DP
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SIO_000300: 2.414881e6

BaseQRankSum
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SIO_000300: -4.585e0

VQSLOD
type: SiteQuality
SIO_000300: -1.153e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11552
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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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: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.034164694459615e-5
allele num: 65916
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.38e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.39e-1

BaseQRankSum
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DP
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SIO_000300: 2.418393e6

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.04e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 14726
num of homozygotes: 0

Latino
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allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66038
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
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African
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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

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

QD
type: SiteQuality
SIO_000300: 1.103e1

DP
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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MQ
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e-1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66054
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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East Asian
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allele num: 8652
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South Asian
type: Population
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allele num: 14788
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Latino
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allele frequency: 0.0e0
allele num: 11564
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Other
type: Population
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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QD
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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South Asian
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European (Non-Finnish)
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Latino
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MQ
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BaseQRankSum
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QD
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DP
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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Other
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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MQRankSum
type: SiteQuality
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MQ
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DP
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ClippingRankSum
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InbreedingCoeff
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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African
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East Asian
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European (Non-Finnish)
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allele num: 66574
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Other
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Latino
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BaseQRankSum
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 2.448434e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

ClippingRankSum
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SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.573e1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.188e0

VQSLOD
type: SiteQuality
SIO_000300: -5.780999999999999e-1

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16232
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.449632e6

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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BaseQRankSum
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SIO_000300: -2.917e0

ReadPosRankSum
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SIO_000300: -1.534e0

VQSLOD
type: SiteQuality
SIO_000300: -2.475e0

ClippingRankSum
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SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 8.23e-1

InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.004085556356645e-5
allele num: 66576
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.112e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.56e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

DP
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SIO_000300: 2.449533e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

QD
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FS
type: SiteQuality
SIO_000300: 2.336e0

VQSLOD
type: SiteQuality
SIO_000300: -9.35e-2

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16234
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.654e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.54e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.333e1

DP
type: SiteQuality
SIO_000300: 2.449623e6

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

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

European (Non-Finnish)
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allele count: 6
allele frequency: 9.013339742819372e-5
allele num: 66568
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.449574e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

QD
type: SiteQuality
SIO_000300: 1.192e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

FS
type: SiteQuality
SIO_000300: 4.072e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504664459825459e-5
allele num: 66460
num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.729505361466621e-4
allele num: 11564
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
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ClippingRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.301e0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66358
num of homozygotes: 0

East Asian
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allele num: 8650
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Other
type: Population
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allele frequency: 0.0e0
allele num: 900
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

South Asian
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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FS
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QD
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MQRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

African
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Other
type: Population
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Latino
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East Asian
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European (Non-Finnish)
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allele frequency: 1.507749834147518e-5
allele num: 66324
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European (Finnish)
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allele num: 6614
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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QD
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ReadPosRankSum
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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allele num: 66262
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African
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European (Finnish)
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Latino
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Other
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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DP
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FS
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66262
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Other
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allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

DP
type: SiteQuality
SIO_000300: 2.436228e6

MQRankSum
type: SiteQuality
SIO_000300: -4.56e-1

FS
type: SiteQuality
SIO_000300: 4.99e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

QD
type: SiteQuality
SIO_000300: 1.227e1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.47920176234288e-5
allele num: 15434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66208
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: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.602e0

FS
type: SiteQuality
SIO_000300: 1.651e0

VQSLOD
type: SiteQuality
SIO_000300: -5.003e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.89e-2

DP
type: SiteQuality
SIO_000300: 2.433457e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 8.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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: 56
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 10368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5109391998066e-5
allele num: 66184
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.201e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.187e0

DP
type: SiteQuality
SIO_000300: 2.432272e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.560999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.709e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 17

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513454611496201e-5
allele num: 66074
num of homozygotes: 0

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

East Asian
type: Population
allele count: 16
allele frequency: 1.851423281647767e-3
allele num: 8642
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

DP
type: SiteQuality
SIO_000300: 2.42621e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

QD
type: SiteQuality
SIO_000300: 1.17e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.848e0

GenotypeQuality
all individuals: 197
bin: 2.75e1
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: 83
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GenotypeQuality
all individuals: 4622
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.028192471913515e-5
allele num: 66046
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

QD
type: SiteQuality
SIO_000300: 1.304e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

DP
type: SiteQuality
SIO_000300: 2.424413e6

GenotypeQuality
all individuals: 23
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.542288707870272e-5
allele num: 66046
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 1.74e0

MQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

DP
type: SiteQuality
SIO_000300: 2.424413e6

QD
type: SiteQuality
SIO_000300: 1.304e1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 11
allele frequency: 1.27373784159333e-3
allele num: 8636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14386
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520588771972508e-5
allele num: 65764
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.092e0

QD
type: SiteQuality
SIO_000300: 1.093e1

DP
type: SiteQuality
SIO_000300: 2.410508e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531581204435459e-5
allele num: 65292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13254
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.003e0

VQSLOD
type: SiteQuality
SIO_000300: -4.59e-2

MQ
type: SiteQuality
SIO_000300: 5.459e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.386769e6

FS
type: SiteQuality
SIO_000300: 6.006e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.915e0

QD
type: SiteQuality
SIO_000300: 3.07e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 21895
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65078
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.00640512409928e-5
allele num: 12490
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.45e-1

FS
type: SiteQuality
SIO_000300: 6.265e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 2.3772e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: -1.664e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.46e-1

QD
type: SiteQuality
SIO_000300: 4.87e0

GenotypeQuality
all individuals: 149
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4482
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2260
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GenotypeQuality
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GenotypeQuality
all individuals: 2695
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GenotypeQuality
all individuals: 9386
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11908
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.788566953797964e-5
allele num: 10216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64850
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64502
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 1.210653753026634e-3
allele num: 826
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

VQSLOD
type: SiteQuality
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DP
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.552939714880269e-5
allele num: 64394
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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South Asian
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allele num: 10564
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ReadPosRankSum
type: SiteQuality
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MQ
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InbreedingCoeff
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DP
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ClippingRankSum
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MQRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 9.379999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.414e1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64352
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.879470460383324e-5
allele num: 10122
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10482
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 2.340556e6

FS
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SIO_000300: 0.0e0

QD
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SIO_000300: 8.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.691e0

MQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64306
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: 9.609840476648087e-5
allele num: 10406
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Other
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
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African
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allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.19e-1

DP
type: SiteQuality
SIO_000300: 2.339091e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

FS
type: SiteQuality
SIO_000300: 5.332e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.132e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.34e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.812e1

MQ
type: SiteQuality
SIO_000300: 6.02e1

MQRankSum
type: SiteQuality
SIO_000300: -1.373e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11462
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European (Non-Finnish)
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allele count: 7
allele frequency: 1.088850174216028e-4
allele num: 64288
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 2
allele frequency: 2.336994624912363e-4
allele num: 8558
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 2.68e0

ClippingRankSum
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VQSLOD
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MQ
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SIO_000300: 5.954e1

MQRankSum
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DP
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QD
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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East Asian
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South Asian
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allele frequency: 1.391982182628062e-4
allele num: 14368
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African
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allele count: 2
allele frequency: 2.293052052281587e-4
allele num: 8722
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 5
allele frequency: 8.861791499769593e-5
allele num: 56422
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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VQSLOD
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56422
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European (Finnish)
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Latino
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East Asian
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South Asian
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African
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Other
type: Population
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FS
type: SiteQuality
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MQ
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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DP
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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Other
type: Population
allele count: 0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5530
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56974
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East Asian
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 16
allele frequency: 1.094690749863164e-3
allele num: 14616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
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allele num: 56974
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Other
type: Population
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 5530
num of homozygotes: 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 count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 3.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.96e-1

QD
type: SiteQuality
SIO_000300: 1.326e1

DP
type: SiteQuality
SIO_000300: 1.234276e6

VQSLOD
type: SiteQuality
SIO_000300: 9.64e-1

FS
type: SiteQuality
SIO_000300: 4.747e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1423
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3943
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 559
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3890
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6914
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3053
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3053
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.709927841045108e-5
allele num: 58482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14944
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.286e0

VQSLOD
type: SiteQuality
SIO_000300: -1.63e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

DP
type: SiteQuality
SIO_000300: 1.238643e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.311e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-1

QD
type: SiteQuality
SIO_000300: 1.692e1

GenotypeQuality
all individuals: 449
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7154
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7237
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3890
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3943
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 578
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3208
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8493
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3053
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.709927841045108e-5
allele num: 58482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8966
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14944
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 8.237232289950577e-4
allele num: 7284
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.269035532994924e-3
allele num: 788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5624
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.238643e6

VQSLOD
type: SiteQuality
SIO_000300: -1.63e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-1

FS
type: SiteQuality
SIO_000300: 4.286e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.311e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.692e1

GenotypeQuality
all individuals: 6916
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1056
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7207
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5237
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3285
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3016
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5622
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.139211665527455e-4
allele num: 8778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.708408788054806e-5
allele num: 58534
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.6711140760507e-4
allele num: 8994
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

FS
type: SiteQuality
SIO_000300: 2.403e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

DP
type: SiteQuality
SIO_000300: 1.241162e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.668e0

QD
type: SiteQuality
SIO_000300: 1.426e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2971
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3815
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8291
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6850
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7065
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5157
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3027
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.763154335181928e-5
allele num: 14786
num of homozygotes: 0