1-8419931-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8419931
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8419931
    reference: chr 1
allele count: 1
allele frequency: 8.313519445321983e-6
allele num: 120286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3511A>G
  hgvsp: ENSP00000383700.2:p.Lys1171Glu
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2707A>G
  hgvsp: ENSP00000366684.1:p.Lys903Glu
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4272A>G
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3511A>G
  hgvsp: ENSP00000338629.3:p.Lys1171Glu
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1849A>G
  hgvsp: ENSP00000422246.1:p.Lys617Glu
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1589A>G
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys1171Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-8419935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8419935
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8419935
    reference: chr 1
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1585G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3507G>A
  hgvsp: ENST00000337907.3:c.3507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1845G>A
  hgvsp: ENST00000476556.1:c.1845G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2703G>A
  hgvsp: ENST00000377464.1:c.2703G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4276G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3507G>A
  hgvsp: ENST00000400908.2:c.3507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys1169Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-8419946-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8419946
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8419946
    reference: chr 1
allele count: 1
allele frequency: 8.303716743614441e-6
allele num: 120428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4287G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1834G>A
  hgvsp: ENSP00000422246.1:p.Ala612Thr
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1574G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3496G>A
  hgvsp: ENSP00000383700.2:p.Ala1166Thr
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3496G>A
  hgvsp: ENSP00000338629.3:p.Ala1166Thr
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2692G>A
  hgvsp: ENSP00000366684.1:p.Ala898Thr
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala1166Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

1-8419954-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8419954
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8419954
    reference: chr 1
allele count: 1
allele frequency: 8.300546175938376e-6
allele num: 120474
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3488G>C
  hgvsp: ENSP00000338629.3:p.Arg1163Thr
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3488G>C
  hgvsp: ENSP00000383700.2:p.Arg1163Thr
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4295G>C
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2684G>C
  hgvsp: ENSP00000366684.1:p.Arg895Thr
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1566G>C
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1826G>C
  hgvsp: ENSP00000422246.1:p.Arg609Thr
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8060
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg1163Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-8419958-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8419958
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8419958
    reference: chr 1
allele count: 1
allele frequency: 8.300546175938376e-6
allele num: 120474
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1562A>G
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2680A>G
  hgvsp: ENSP00000366684.1:p.Lys894Glu
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1822A>G
  hgvsp: ENSP00000422246.1:p.Lys608Glu
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4299A>G
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3484A>G
  hgvsp: ENSP00000383700.2:p.Lys1162Glu
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3484A>G
  hgvsp: ENSP00000338629.3:p.Lys1162Glu
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys1162Glu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/1-8419973-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8419973
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8419973
    reference: chr 1
allele count: 1
allele frequency: 8.300408380092301e-6
allele num: 120476
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1547T>G
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1807T>G
  hgvsp: ENSP00000422246.1:p.Ser603Ala
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3469T>G
  hgvsp: ENSP00000383700.2:p.Ser1157Ala
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4314T>G
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2665T>G
  hgvsp: ENSP00000366684.1:p.Ser889Ala
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3469T>G
  hgvsp: ENSP00000338629.3:p.Ser1157Ala
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser1157Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

1-8419976-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8419976
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8419976
    reference: chr 1
allele count: 2
allele frequency: 1.660054117764239e-5
allele num: 120478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4317G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2662G>A
  hgvsp: ENSP00000366684.1:p.Gly888Arg
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3466G>A
  hgvsp: ENSP00000338629.3:p.Gly1156Arg
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1804G>A
  hgvsp: ENSP00000422246.1:p.Gly602Arg
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1544G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3466G>A
  hgvsp: ENSP00000383700.2:p.Gly1156Arg
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly1156Arg
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-8419977-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8419977
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8419977
    reference: chr 1
allele count: 3
allele frequency: 2.489998506000897e-5
allele num: 120482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4318C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3465C>T
  hgvsp: ENST00000400908.2:c.3465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3465C>T
  hgvsp: ENST00000337907.3:c.3465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1803C>T
  hgvsp: ENST00000476556.1:c.1803C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1543C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2661C>T
  hgvsp: ENST00000377464.1:c.2661C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala1155Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

1-8419979-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8419979
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8419979
    reference: chr 1
allele count: 1
allele frequency: 8.299719469481931e-6
allele num: 120486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4320G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1801G>A
  hgvsp: ENSP00000422246.1:p.Ala601Thr
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2659G>A
  hgvsp: ENSP00000366684.1:p.Ala887Thr
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3463G>A
  hgvsp: ENSP00000383700.2:p.Ala1155Thr
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1541G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3463G>A
  hgvsp: ENSP00000338629.3:p.Ala1155Thr
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala1155Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

1-8419986-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8419986
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8419986
    reference: chr 1
allele count: 22
allele frequency: 1.826120158706443e-4
allele num: 120474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3456G>C
  hgvsp: ENSP00000383700.2:p.Met1152Ile
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4327G>C
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2652G>C
  hgvsp: ENSP00000366684.1:p.Met884Ile
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3456G>C
  hgvsp: ENSP00000338629.3:p.Met1152Ile
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1534G>C
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1794G>C
  hgvsp: ENSP00000422246.1:p.Met598Ile
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44977
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met1152Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-8419986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8419986
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8419986
    reference: chr 1
allele count: 4
allele frequency: 3.32021847037535e-5
allele num: 120474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2652G>A
  hgvsp: ENSP00000366684.1:p.Met884Ile
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1794G>A
  hgvsp: ENSP00000422246.1:p.Met598Ile
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3456G>A
  hgvsp: ENSP00000338629.3:p.Met1152Ile
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4327G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1534G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3456G>A
  hgvsp: ENSP00000383700.2:p.Met1152Ile
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Met1152Ile
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-8419992-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8419992
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8419992
    reference: chr 1
allele count: 3
allele frequency: 2.491321895397698e-5
allele num: 120418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4333C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3450C>T
  hgvsp: ENST00000400908.2:c.3450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2646C>T
  hgvsp: ENST00000377464.1:c.2646C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3450C>T
  hgvsp: ENST00000337907.3:c.3450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1788C>T
  hgvsp: ENST00000476556.1:c.1788C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1528C>T
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8570
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr1150Tyr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

1-8420007-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420007
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420007
    reference: chr 1
allele count: 1
allele frequency: 8.31282835672009e-6
allele num: 120296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3435C>T
  hgvsp: ENST00000400908.2:c.3435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2631C>T
  hgvsp: ENST00000377464.1:c.2631C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1513C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4348C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1773C>T
  hgvsp: ENST00000476556.1:c.1773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3435C>T
  hgvsp: ENST00000337907.3:c.3435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44796
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala1145Ala
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-8420008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420008
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420008
    reference: chr 1
allele count: 1
allele frequency: 8.314487162431821e-6
allele num: 120272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4349C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1512C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3434C>T
  hgvsp: ENSP00000338629.3:p.Ala1145Val
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2630C>T
  hgvsp: ENSP00000366684.1:p.Ala877Val
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3434C>T
  hgvsp: ENSP00000383700.2:p.Ala1145Val
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1772C>T
  hgvsp: ENSP00000422246.1:p.Ala591Val
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala1145Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

1-8420017-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420017
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420017
    reference: chr 1
allele count: 1
allele frequency: 8.325008325008325e-6
allele num: 120120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1763A>G
  hgvsp: ENSP00000422246.1:p.Asn588Ser
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3425A>G
  hgvsp: ENSP00000383700.2:p.Asn1142Ser
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4358A>G
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2621A>G
  hgvsp: ENSP00000366684.1:p.Asn874Ser
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1503A>G
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3425A>G
  hgvsp: ENSP00000338629.3:p.Asn1142Ser
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn1142Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP

1-8420021-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420021
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420021
    reference: chr 1
allele count: 1
allele frequency: 8.330278897737497e-6
allele num: 120044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3421T>C
  hgvsp: ENSP00000383700.2:p.Tyr1141His
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1759T>C
  hgvsp: ENSP00000422246.1:p.Tyr587His
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2617T>C
  hgvsp: ENSP00000366684.1:p.Tyr873His
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4362T>C
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3421T>C
  hgvsp: ENSP00000338629.3:p.Tyr1141His
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1499T>C
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7972
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr1141His
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-8420026-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420026
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420026
    reference: chr 1
allele count: 1
allele frequency: 8.339031671642289e-6
allele num: 119918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4367G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3416G>A
  hgvsp: ENSP00000383700.2:p.Arg1139Gln
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1754G>A
  hgvsp: ENSP00000422246.1:p.Arg585Gln
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1494G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2612G>A
  hgvsp: ENSP00000366684.1:p.Arg871Gln
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3416G>A
  hgvsp: ENSP00000338629.3:p.Arg1139Gln
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg1139Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-8420028-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420028
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420028
    reference: chr 1
allele count: 1
allele frequency: 8.342231713828083e-6
allele num: 119872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2610C>T
  hgvsp: ENST00000377464.1:c.2610C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1752C>T
  hgvsp: ENST00000476556.1:c.1752C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1492C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3414C>T
  hgvsp: ENST00000400908.2:c.3414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3414C>T
  hgvsp: ENST00000337907.3:c.3414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4369C>T
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp1138Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

1-8420041-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420041
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420041
    reference: chr 1
allele count: 3
allele frequency: 2.509914160935696e-5
allele num: 119526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2597A>G
  hgvsp: ENSP00000366684.1:p.Tyr866Cys
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3401A>G
  hgvsp: ENSP00000383700.2:p.Tyr1134Cys
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1739A>G
  hgvsp: ENSP00000422246.1:p.Tyr580Cys
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4382A>G
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3401A>G
  hgvsp: ENSP00000338629.3:p.Tyr1134Cys
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1479A>G
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr1134Cys
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

1-8420041-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420041
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420041
    reference: chr 1
allele count: 1
allele frequency: 8.36638053645232e-6
allele num: 119526
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1479A>C
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1739A>C
  hgvsp: ENSP00000422246.1:p.Tyr580Ser
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2597A>C
  hgvsp: ENSP00000366684.1:p.Tyr866Ser
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3401A>C
  hgvsp: ENSP00000383700.2:p.Tyr1134Ser
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3401A>C
  hgvsp: ENSP00000338629.3:p.Tyr1134Ser
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4382A>C
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr1134Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-8420045-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420045
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420045
    reference: chr 1
allele count: 1
allele frequency: 8.377594960038872e-6
allele num: 119366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2593T>G
  hgvsp: ENSP00000366684.1:p.Phe865Val
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3397T>G
  hgvsp: ENSP00000383700.2:p.Phe1133Val
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1475T>G
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1735T>G
  hgvsp: ENSP00000422246.1:p.Phe579Val
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4386T>G
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3397T>G
  hgvsp: ENSP00000338629.3:p.Phe1133Val
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8497
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7880
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43689
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe1133Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

1-8420049-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420049
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420049
    reference: chr 1
allele count: 3
allele frequency: 2.515385776331897e-5
allele num: 119266
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3396-3C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3396-3C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2592-3C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1734-3C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1471C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4390C>T
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43548
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7854
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
hgvs: c.3396-3C>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-8420065-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420065
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420065
    reference: chr 1
allele count: 29
allele frequency: 2.448414440579514e-4
allele num: 118444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2592-19G>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1455G>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3396-19G>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4406G>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1734-19G>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3396-19G>T
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22083
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8378
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7680
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-8420068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420068
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420068
    reference: chr 1
allele count: 1
allele frequency: 8.459950593888532e-6
allele num: 118204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1734-22C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1452C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3396-22C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3396-22C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4409C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2592-22C>T
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 328
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 103
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 102
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genotype quality: GenotypeQuality
  all individuals: 891
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genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
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: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-8420076-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420076
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420076
    reference: chr 1
allele count: 29
allele frequency: 2.471787528553408e-4
allele num: 117324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2592-30G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1734-30G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3396-30G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4417G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1444G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3396-30G>A
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20574
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3231
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-8420081-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420081
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420081
    reference: chr 1
allele count: 3
allele frequency: 2.56160663968441e-5
allele num: 117114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4422C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2592-35C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3396-35C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3396-35C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1734-35C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1439C>T
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

1-8420082-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420082
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420082
    reference: chr 1
allele count: 1
allele frequency: 8.5647236163689e-6
allele num: 116758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2592-36G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1734-36G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1438G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4423G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3396-36G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3396-36G>A
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

1-8420083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420083
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420083
    reference: chr 1
allele count: 1
allele frequency: 8.567218395531339e-6
allele num: 116724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3396-37G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2592-37G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1734-37G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3396-37G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4424G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1437G>A
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4588
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-8420084-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420084
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420084
    reference: chr 1
allele count: 111
allele frequency: 9.515481946301821e-4
allele num: 116652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2592-38C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3396-38C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4425C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1734-38C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1436C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3396-38C>T
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7867
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 17150
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19785
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 684
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7029
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genotype quality: GenotypeQuality
  all individuals: 873
  bin: 9.75e1
  variant carriers: 111
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS

1-8420095-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420095
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420095
    reference: chr 1
allele count: 3
allele frequency: 2.624625990796311e-5
allele num: 114302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4436G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3396-49G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1425G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2592-49G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3396-49G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1734-49G>A
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

1-8420096-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420096
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420096
    reference: chr 1
allele count: 71
allele frequency: 6.241538759076604e-4
allele num: 113754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1734-50C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3396-50C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4437C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3396-50C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1424C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2592-50C>T
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16537
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8201
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 570
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6619
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  variant carriers: 6
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17949
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genotype depth: GenotypeDepth
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  variant carriers: 8
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3740
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 896
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 4676
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5350
  bin: 6.75e1
  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: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-8420097-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420097
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420097
    reference: chr 1
allele count: 1
allele frequency: 8.793837278834993e-6
allele num: 113716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1423C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1734-51C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3396-51C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2592-51C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3396-51C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4438C>T
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 8178
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17914
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genotype depth: GenotypeDepth
  all individuals: 1948
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 16581
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genotype depth: GenotypeDepth
  all individuals: 15
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genotype depth: GenotypeDepth
  all individuals: 261
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genotype depth: GenotypeDepth
  all individuals: 41
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genotype quality: GenotypeQuality
  all individuals: 1114
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1954
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4312
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genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

1-8420123-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420123
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420123
    reference: chr 1
allele count: 1
allele frequency: 1.120498397687291e-5
allele num: 89246
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3395+49G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3395+49G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1397G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1733+49G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4464G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2591+49G>A
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2698
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10407
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

1-8420124-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420124
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420124
    reference: chr 1
allele count: 2
allele frequency: 2.249516353983894e-5
allele num: 88908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4465G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2591+48G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1733+48G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1396G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3395+48G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3395+48G>A
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10663
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

1-8420129-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420129
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420129
    reference: chr 1
allele count: 1
allele frequency: 1.155001155001155e-5
allele num: 86580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4470C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1733+43C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2591+43C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3395+43C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1391C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3395+43C>T
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19644
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4355
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5793
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

1-8420129-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420129
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420129
    reference: chr 1
allele count: 1
allele frequency: 1.155001155001155e-5
allele num: 86580
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4470C>G
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1391C>G
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2591+43C>G
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1733+43C>G
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3395+43C>G
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3395+43C>G
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16796
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11091
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13162
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19644
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-8420131-CCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420131
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420129
    reference: chr 1
allele count: 7
allele frequency: 8.077730850008078e-5
allele num: 86658
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1733+39_1733+40delTG
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4474_1541-4473delTG
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3395+39_3395+40delTG
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2591+39_2591+40delTG
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1387_307+1388delTG
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3395+39_3395+40delTG
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10820
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6161
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16811
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4873
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10864
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4289
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: CCA
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-8420147-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420147
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420147
    reference: chr 1
allele count: 3
allele frequency: 3.682608268683099e-5
allele num: 81464
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3395+25G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1373G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4488G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3395+25G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2591+25G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1733+25G>A
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16164
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9881
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14994
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 1982
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genotype quality: GenotypeQuality
  all individuals: 4093
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genotype quality: GenotypeQuality
  all individuals: 760
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4004
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1642
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

1-8420148-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420148
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420148
    reference: chr 1
allele count: 8
allele frequency: 9.843730773963332e-5
allele num: 81270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4489C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3395+24C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1733+24C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2591+24C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3395+24C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1372C>T
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9470
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10276
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15069
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 3841
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 4116
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 7
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-8420158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420158
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420158
    reference: chr 1
allele count: 1
allele frequency: 1.247940897519093e-5
allele num: 80132
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3395+14G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2591+14G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4499G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3395+14G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1733+14G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1362G>A
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 12093
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1227
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1111
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genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1129
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genotype quality: GenotypeQuality
  all individuals: 159
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

1-8420159-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420159
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420159
    reference: chr 1
allele count: 1
allele frequency: 1.25037511253376e-5
allele num: 79976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1733+13G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4500G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3395+13G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2591+13G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3395+13G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1361G>A
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7150
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1321
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 447
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

1-8420162-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420162
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420162
    reference: chr 1
allele count: 1
allele frequency: 1.25344697919278e-5
allele num: 79780
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3395+10C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2591+10C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1733+10C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1358C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3395+10C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4503C>T
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16082
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 3890
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 6433
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4346
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-8420165-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420165
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420165
    reference: chr 1
allele count: 1
allele frequency: 1.262339367315509e-5
allele num: 79218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1355T>C
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1733+7T>C
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3395+7T>C
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2591+7T>C
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3395+7T>C
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4506T>C
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 6
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4092
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
hgvs: c.3395+7T>C
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

1-8420167-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420167
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420167
    reference: chr 1
allele count: 1
allele frequency: 1.268488215744476e-5
allele num: 78834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3395+5G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3395+5G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2591+5G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1353G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1733+5G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4508G>A
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13754
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4089
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3976
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 22684
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genotype quality: GenotypeQuality
  all individuals: 1091
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genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
hgvs: c.3395+5G>A
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-8420168-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420168
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420168
    reference: chr 1
allele count: 3
allele frequency: 3.823799327011319e-5
allele num: 78456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3395+4C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1733+4C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3395+4C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4509C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2591+4C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1352C>T
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22768
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4039
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genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 250
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genotype quality: GenotypeQuality
  all individuals: 480
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
hgvs: c.3395+4C>T
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-8420176-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420176
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420176
    reference: chr 1
allele count: 2
allele frequency: 2.580645161290323e-5
allele num: 77500
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1729G>C
  hgvsp: ENSP00000422246.1:p.Ala577Pro
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4517G>C
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2587G>C
  hgvsp: ENSP00000366684.1:p.Ala863Pro
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3391G>C
  hgvsp: ENSP00000338629.3:p.Ala1131Pro
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3391G>C
  hgvsp: ENSP00000383700.2:p.Ala1131Pro
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1344G>C
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14060
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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genotype depth: GenotypeDepth
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 23271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 178
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genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3665
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1131Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

1-8420186-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420186
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420186
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 75702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4527C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3381C>T
  hgvsp: ENST00000400908.2:c.3381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1719C>T
  hgvsp: ENST00000476556.1:c.1719C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1334C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2577C>T
  hgvsp: ENST00000377464.1:c.2577C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3381C>T
  hgvsp: ENST00000337907.3:c.3381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14923
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23333
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala1127Ala
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-8420188-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420188
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420188
    reference: chr 1
allele count: 27
allele frequency: 3.658338301447076e-4
allele num: 73804
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3379G>A
  hgvsp: ENSP00000338629.3:p.Ala1127Thr
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1332G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4529G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1717G>A
  hgvsp: ENSP00000422246.1:p.Ala573Thr
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2575G>A
  hgvsp: ENSP00000366684.1:p.Ala859Thr
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3379G>A
  hgvsp: ENSP00000383700.2:p.Ala1127Thr
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13403
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14719
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Ala1127Thr
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: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

1-8420189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420189
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420189
    reference: chr 1
allele count: 3
allele frequency: 4.024468770122344e-5
allele num: 74544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4530C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3378C>T
  hgvsp: ENST00000337907.3:c.3378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2574C>T
  hgvsp: ENST00000377464.1:c.2574C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1716C>T
  hgvsp: ENST00000476556.1:c.1716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3378C>T
  hgvsp: ENST00000400908.2:c.3378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1331C>T
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14456
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3550
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13799
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His1126His
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

1-8420189-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420189
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420189
    reference: chr 1
allele count: 1
allele frequency: 1.341489590040781e-5
allele num: 74544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1331C>G
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3378C>G
  hgvsp: ENSP00000383700.2:p.His1126Gln
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2574C>G
  hgvsp: ENSP00000366684.1:p.His858Gln
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1716C>G
  hgvsp: ENSP00000422246.1:p.His572Gln
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4530C>G
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3378C>G
  hgvsp: ENSP00000338629.3:p.His1126Gln
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4322
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His1126Gln
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

1-8420198-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420198
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420198
    reference: chr 1
allele count: 1
allele frequency: 1.345605253242909e-5
allele num: 74316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3369C>T
  hgvsp: ENST00000400908.2:c.3369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1707C>T
  hgvsp: ENST00000476556.1:c.1707C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2565C>T
  hgvsp: ENST00000377464.1:c.2565C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1322C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4539C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3369C>T
  hgvsp: ENST00000337907.3:c.3369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr1123Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-8420198-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420198
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420198
    reference: chr 1
allele count: 2
allele frequency: 2.691210506485817e-5
allele num: 74316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4539C>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3369C>A
  hgvsp: ENST00000400908.2:c.3369C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3369C>A
  hgvsp: ENST00000337907.3:c.3369C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1707C>A
  hgvsp: ENST00000476556.1:c.1707C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2565C>A
  hgvsp: ENST00000377464.1:c.2565C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1322C>A
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16214
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18326
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
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 quality: GenotypeQuality
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr1123Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

1-8420199-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420199
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420199
    reference: chr 1
allele count: 1
allele frequency: 1.348399449853025e-5
allele num: 74162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1321C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4540C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1706C>T
  hgvsp: ENSP00000422246.1:p.Thr569Ile
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3368C>T
  hgvsp: ENSP00000383700.2:p.Thr1123Ile
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2564C>T
  hgvsp: ENSP00000366684.1:p.Thr855Ile
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3368C>T
  hgvsp: ENSP00000338629.3:p.Thr1123Ile
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24374
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr1123Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

1-8420199-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420199
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420199
    reference: chr 1
allele count: 11
allele frequency: 1.483239394838327e-4
allele num: 74162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1706C>A
  hgvsp: ENSP00000422246.1:p.Thr569Asn
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3368C>A
  hgvsp: ENSP00000338629.3:p.Thr1123Asn
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1321C>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4540C>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2564C>A
  hgvsp: ENSP00000366684.1:p.Thr855Asn
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3368C>A
  hgvsp: ENSP00000383700.2:p.Thr1123Asn
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 2.5e0
  variant carriers: 0
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: 444
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18395
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16255
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12595
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr1123Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

1-8420209-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420209
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420209
    reference: chr 1
allele count: 1
allele frequency: 1.402524544179523e-5
allele num: 71300
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3358G>C
  hgvsp: ENSP00000338629.3:p.Val1120Leu
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1311G>C
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4550G>C
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1696G>C
  hgvsp: ENSP00000422246.1:p.Val566Leu
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2554G>C
  hgvsp: ENSP00000366684.1:p.Val852Leu
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3358G>C
  hgvsp: ENSP00000383700.2:p.Val1120Leu
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14962
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4343
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25883
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val1120Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

1-8420209-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420209
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420209
    reference: chr 1
allele count: 1
allele frequency: 1.402524544179523e-5
allele num: 71300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1311G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2554G>A
  hgvsp: ENSP00000366684.1:p.Val852Met
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4550G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1696G>A
  hgvsp: ENSP00000422246.1:p.Val566Met
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3358G>A
  hgvsp: ENSP00000338629.3:p.Val1120Met
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3358G>A
  hgvsp: ENSP00000383700.2:p.Val1120Met
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14962
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4343
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
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genotype quality: GenotypeQuality
  all individuals: 13
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genotype quality: GenotypeQuality
  all individuals: 1261
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genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val1120Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

1-8420212-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420212
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420212
    reference: chr 1
allele count: 1
allele frequency: 1.409999718000056e-5
allele num: 70922
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3355A>G
  hgvsp: ENSP00000383700.2:p.Thr1119Ala
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2551A>G
  hgvsp: ENSP00000366684.1:p.Thr851Ala
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1693A>G
  hgvsp: ENSP00000422246.1:p.Thr565Ala
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4553A>G
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3355A>G
  hgvsp: ENSP00000338629.3:p.Thr1119Ala
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1308A>G
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13222
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 344
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genotype quality: GenotypeQuality
  all individuals: 16896
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genotype quality: GenotypeQuality
  all individuals: 199
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
  all individuals: 26368
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genotype quality: GenotypeQuality
  all individuals: 4397
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr1119Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-8420216-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420216
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420216
    reference: chr 1
allele count: 1
allele frequency: 1.45209537362414e-5
allele num: 68866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1304G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4557G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2547G>A
  hgvsp: ENST00000377464.1:c.2547G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1689G>A
  hgvsp: ENST00000476556.1:c.1689G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3351G>A
  hgvsp: ENST00000337907.3:c.3351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3351G>A
  hgvsp: ENST00000400908.2:c.3351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13880
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20185
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 4560
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu1117Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

1-8420218-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420218
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420218
    reference: chr 1
allele count: 1
allele frequency: 1.464171718059094e-5
allele num: 68298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4559G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3349G>A
  hgvsp: ENSP00000383700.2:p.Glu1117Lys
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3349G>A
  hgvsp: ENSP00000338629.3:p.Glu1117Lys
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1687G>A
  hgvsp: ENSP00000422246.1:p.Glu563Lys
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1302G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2545G>A
  hgvsp: ENSP00000366684.1:p.Glu849Lys
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12339
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4627
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu1117Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-8420219-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420219
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420219
    reference: chr 1
allele count: 1
allele frequency: 1.480560243996328e-5
allele num: 67542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1301G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1686G>A
  hgvsp: ENST00000476556.1:c.1686G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2544G>A
  hgvsp: ENST00000377464.1:c.2544G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3348G>A
  hgvsp: ENST00000337907.3:c.3348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3348G>A
  hgvsp: ENST00000400908.2:c.3348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4560G>A
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11875
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4673
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27556
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro1116Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

1-8420220-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420220
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420220
    reference: chr 1
allele count: 1
allele frequency: 1.480121962049673e-5
allele num: 67562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4561C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1685C>T
  hgvsp: ENSP00000422246.1:p.Pro562Leu
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2543C>T
  hgvsp: ENSP00000366684.1:p.Pro848Leu
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3347C>T
  hgvsp: ENSP00000383700.2:p.Pro1116Leu
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1300C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3347C>T
  hgvsp: ENSP00000338629.3:p.Pro1116Leu
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13916
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27823
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro1116Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

1-8420225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420225
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420225
    reference: chr 1
allele count: 23
allele frequency: 3.500547911847072e-4
allele num: 65704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3342G>A
  hgvsp: ENST00000400908.2:c.3342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1680G>A
  hgvsp: ENST00000476556.1:c.1680G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3342G>A
  hgvsp: ENST00000337907.3:c.3342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1295G>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2538G>A
  hgvsp: ENST00000377464.1:c.2538G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4566G>A
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14691
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10811
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21286
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29029
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro1114Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-8420226-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420226
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420226
    reference: chr 1
allele count: 6
allele frequency: 9.301171947665406e-5
allele num: 64508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1679C>T
  hgvsp: ENSP00000422246.1:p.Pro560Leu
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3341C>T
  hgvsp: ENSP00000383700.2:p.Pro1114Leu
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4567C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3341C>T
  hgvsp: ENSP00000338629.3:p.Pro1114Leu
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2537C>T
  hgvsp: ENSP00000366684.1:p.Pro846Leu
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1294C>T
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14914
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21624
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10089
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5073
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro1114Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-8420229-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420229
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420229
    reference: chr 1
allele count: 1
allele frequency: 1.565043195192187e-5
allele num: 63896
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3338G>T
  hgvsp: ENSP00000338629.3:p.Ser1113Ile
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4570G>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3338G>T
  hgvsp: ENSP00000383700.2:p.Ser1113Ile
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1676G>T
  hgvsp: ENSP00000422246.1:p.Ser559Ile
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2534G>T
  hgvsp: ENSP00000366684.1:p.Ser845Ile
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1291G>T
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5135
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser1113Ile
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

1-8420229-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420229
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420229
    reference: chr 1
allele count: 1
allele frequency: 1.565043195192187e-5
allele num: 63896
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1291G>C
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3338G>C
  hgvsp: ENSP00000338629.3:p.Ser1113Thr
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2534G>C
  hgvsp: ENSP00000366684.1:p.Ser845Thr
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1676G>C
  hgvsp: ENSP00000422246.1:p.Ser559Thr
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3338G>C
  hgvsp: ENSP00000383700.2:p.Ser1113Thr
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1541-4570G>C
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14969
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser1113Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

1-8420233-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420233
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420233
    reference: chr 1
allele count: 1
allele frequency: 1.604466835670507e-5
allele num: 62326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1540+4573A>C
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3334A>C
  hgvsp: ENST00000400908.2:c.3334A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3334A>C
  hgvsp: ENST00000337907.3:c.3334A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2530A>C
  hgvsp: ENST00000377464.1:c.2530A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1672A>C
  hgvsp: ENST00000476556.1:c.1672A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1287A>C
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5379
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10105
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1112Arg
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

1-8420234-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420234
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420234
    reference: chr 1
allele count: 2
allele frequency: 3.224142378127418e-5
allele num: 62032
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1671A>G
  hgvsp: ENST00000476556.1:c.1671A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3333A>G
  hgvsp: ENST00000400908.2:c.3333A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2529A>G
  hgvsp: ENST00000377464.1:c.2529A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1286A>G
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3333A>G
  hgvsp: ENST00000337907.3:c.3333A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1540+4572A>G
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22695
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15312
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5423
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9946
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro1111Pro
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: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

1-8420238-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420238
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420238
    reference: chr 1
allele count: 3
allele frequency: 5.050675106905957e-5
allele num: 59398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1282C>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3329C>A
  hgvsp: ENSP00000383700.2:p.Pro1110Gln
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3329C>A
  hgvsp: ENSP00000338629.3:p.Pro1110Gln
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2525C>A
  hgvsp: ENSP00000366684.1:p.Pro842Gln
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1540+4568C>A
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1667C>A
  hgvsp: ENSP00000422246.1:p.Pro556Gln
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15459
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6012
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7914
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3328
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5912
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30493
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro1110Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-8420254-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420254
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420254
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 52488
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2509G>C
  hgvsp: ENSP00000366684.1:p.Glu837Gln
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3313G>C
  hgvsp: ENSP00000383700.2:p.Glu1105Gln
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1540+4552G>C
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1266G>C
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1651G>C
  hgvsp: ENSP00000422246.1:p.Glu551Gln
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3313G>C
  hgvsp: ENSP00000338629.3:p.Glu1105Gln
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25144
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
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: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7833
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu1105Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-8420255-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420255
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420255
    reference: chr 1
allele count: 1
allele frequency: 1.90817845284891e-5
allele num: 52406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1540+4551T>C
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1265T>C
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2508T>C
  hgvsp: ENST00000377464.1:c.2508T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1650T>C
  hgvsp: ENST00000476556.1:c.1650T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3312T>C
  hgvsp: ENST00000400908.2:c.3312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3312T>C
  hgvsp: ENST00000337907.3:c.3312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25173
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32003
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro1104Pro
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

1-8420257-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420257
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420257
    reference: chr 1
allele count: 1
allele frequency: 1.953353908661171e-5
allele num: 51194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1263C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3310C>T
  hgvsp: ENSP00000338629.3:p.Pro1104Ser
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2506C>T
  hgvsp: ENSP00000366684.1:p.Pro836Ser
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1648C>T
  hgvsp: ENSP00000422246.1:p.Pro550Ser
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3310C>T
  hgvsp: ENSP00000383700.2:p.Pro1104Ser
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1540+4549C>T
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7905
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro1104Ser
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

1-8420262-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420262
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420262
    reference: chr 1
allele count: 4
allele frequency: 8.303234109685722e-5
allele num: 48174
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3305A>G
  hgvsp: ENSP00000338629.3:p.Glu1102Gly
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1258A>G
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3305A>G
  hgvsp: ENSP00000383700.2:p.Glu1102Gly
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2501A>G
  hgvsp: ENSP00000366684.1:p.Glu834Gly
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1643A>G
  hgvsp: ENSP00000422246.1:p.Glu548Gly
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1540+4544A>G
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14281
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26223
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8824
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30544
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu1102Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-8420265-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8420265
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 8420265
    reference: chr 1
allele count: 1
allele frequency: 2.169197396963124e-5
allele num: 46100
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000338629
  ensembl transcript: ENST00000337907
  gene symbol: RERE
  hgvsc: ENST00000337907.3:c.3302C>T
  hgvsp: ENSP00000338629.3:p.Ala1101Val
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000422246
  ensembl transcript: ENST00000476556
  gene symbol: RERE
  hgvsc: ENST00000476556.1:c.1640C>T
  hgvsp: ENSP00000422246.1:p.Ala547Val
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383700
  ensembl transcript: ENST00000400908
  gene symbol: RERE
  hgvsc: ENST00000400908.2:c.3302C>T
  hgvsp: ENSP00000383700.2:p.Ala1101Val
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000383699
  ensembl transcript: ENST00000400907
  gene symbol: RERE
  hgvsc: ENST00000400907.2:c.1540+4541C>T
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000366684
  ensembl transcript: ENST00000377464
  gene symbol: RERE
  hgvsc: ENST00000377464.1:c.2498C>T
  hgvsp: ENSP00000366684.1:p.Ala833Val
  variant of: http://identifiers.org/hgnc/9965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142599
  ensembl protein: ENSP00000423451
  ensembl transcript: ENST00000505225
  gene symbol: RERE
  hgvsc: ENST00000505225.1:c.307+1255C>T
  variant of: http://identifiers.org/hgnc/9965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13526
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala1101Val
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44913
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2289
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8042
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166316771635176e-4
allele num: 8574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65936
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 6.506e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.584852e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: -4.65e-2

QD
type: SiteQuality
SIO_000300: 1.068e1

GenotypeQuality
all individuals: 44943
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1942
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8039
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2290
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166316771635176e-4
allele num: 8574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65990
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.804e0

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.809e1

FS
type: SiteQuality
SIO_000300: 4.346e0

DP
type: SiteQuality
SIO_000300: 1.585822e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-1

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44973
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2286
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-5
allele num: 66040
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.586766e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.176e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

FS
type: SiteQuality
SIO_000300: 9.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.343e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 45002
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1940
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66068
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
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: 6602
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.897e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.84e-1

QD
type: SiteQuality
SIO_000300: 1.057e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.37e-1

DP
type: SiteQuality
SIO_000300: 1.587043e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.551e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.62e-1

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44988
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513592056668887e-5
allele num: 66068
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 5.041e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e0

VQSLOD
type: SiteQuality
SIO_000300: -9.279999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.586921e6

QD
type: SiteQuality
SIO_000300: 8.85e0

GenotypeQuality
all individuals: 1931
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8037
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44916
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66072
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-1

FS
type: SiteQuality
SIO_000300: 7.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

DP
type: SiteQuality
SIO_000300: 1.587027e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 1.392e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2280
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8042
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026542780182198e-5
allele num: 66082
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.587155e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e0

FS
type: SiteQuality
SIO_000300: 1.163e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.31e-1

QD
type: SiteQuality
SIO_000300: 1.141e1

GenotypeQuality
all individuals: 1093
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8043
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 353
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.725734292939116e-5
allele num: 10282
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.141e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

FS
type: SiteQuality
SIO_000300: 4.113e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 1.587263e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 44998
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8042
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66092
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.518e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.163e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: -7.5e-1

FS
type: SiteQuality
SIO_000300: 4.122e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.97e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

DP
type: SiteQuality
SIO_000300: 1.587149e6

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

GenotypeQuality
all individuals: 751
bin: 9.75e1
variant carriers: 22

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

GenotypeQuality
all individuals: 8035
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 14
allele frequency: 2.122498483929654e-3
allele num: 6596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.222222222222222e-3
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.078254554257701e-5
allele num: 66092
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 1.587696e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.33e-1

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e-1

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44977
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66092
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.601005722212589e-4
allele num: 11534
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e-1

DP
type: SiteQuality
SIO_000300: 1.587696e6

GenotypeQuality
all individuals: 44867
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2276
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66056
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.50385423966363e-4
allele num: 8562
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.58577e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e0

FS
type: SiteQuality
SIO_000300: 4.63e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.31e-1

QD
type: SiteQuality
SIO_000300: 1.159e1

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1094
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65978
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.583754e6

FS
type: SiteQuality
SIO_000300: 1.064e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.72e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

QD
type: SiteQuality
SIO_000300: 9.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1919
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8008
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.22e-1

FS
type: SiteQuality
SIO_000300: 2.931e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.583504e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.178e0

MQRankSum
type: SiteQuality
SIO_000300: 9.09e-1

QD
type: SiteQuality
SIO_000300: 9.51e0

VQSLOD
type: SiteQuality
SIO_000300: 3.45e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

GenotypeQuality
all individuals: 858
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7981
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1911
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518602885345482e-5
allele num: 65850
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e0

FS
type: SiteQuality
SIO_000300: 1.911e0

VQSLOD
type: SiteQuality
SIO_000300: 5.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.69e-1

QD
type: SiteQuality
SIO_000300: 1.236e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

DP
type: SiteQuality
SIO_000300: 1.580796e6

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2249
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44520
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65790
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

QD
type: SiteQuality
SIO_000300: 1.227e1

FS
type: SiteQuality
SIO_000300: 2.105e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.64e-1

DP
type: SiteQuality
SIO_000300: 1.579312e6

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1082
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7961
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521699433927811e-5
allele num: 65716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e0

VQSLOD
type: SiteQuality
SIO_000300: -2.52e0

MQ
type: SiteQuality
SIO_000300: 5.822e1

MQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

DP
type: SiteQuality
SIO_000300: 1.57756e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 2.455e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.248e0

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

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522487134983709e-5
allele num: 65682
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.363e0

VQSLOD
type: SiteQuality
SIO_000300: 5.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.09e0

DP
type: SiteQuality
SIO_000300: 1.576593e6

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

QD
type: SiteQuality
SIO_000300: 1.58e1

FS
type: SiteQuality
SIO_000300: 5.613e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.982e1

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

GenotypeQuality
all individuals: 180
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 359
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.824151769427216e-4
allele num: 16446
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.801e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

QD
type: SiteQuality
SIO_000300: 1.428e1

VQSLOD
type: SiteQuality
SIO_000300: 3.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 1.570214e6

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2236
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1896
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527463799107961e-5
allele num: 65468
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.14e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.428e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

FS
type: SiteQuality
SIO_000300: 6.801e0

DP
type: SiteQuality
SIO_000300: 1.570214e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

GenotypeQuality
all individuals: 1456
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529332599253686e-5
allele num: 65388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.567037e6

FS
type: SiteQuality
SIO_000300: 1.306e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

MQ
type: SiteQuality
SIO_000300: 5.806e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.398e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.46e-1

QD
type: SiteQuality
SIO_000300: 1.304e1

MQRankSum
type: SiteQuality
SIO_000300: -1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

GenotypeQuality
all individuals: 359
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2231
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.591368227731864e-5
allele num: 65340
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.564537e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.498e0

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

GenotypeQuality
all individuals: 2865
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41036
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 9.75e1
variant carriers: 29

GenotypeQuality
all individuals: 1066
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.001803245842517e-4
allele num: 9982
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.31074298734489e-4
allele num: 64954
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.782e0

QD
type: SiteQuality
SIO_000300: 1.343e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

DP
type: SiteQuality
SIO_000300: 1.535254e6

GenotypeQuality
all individuals: 110
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40157
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1865
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64804
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.181195369714151e-4
allele num: 8466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16092
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.044e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.94e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.42e0

DP
type: SiteQuality
SIO_000300: 1.525257e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.04e-1

QD
type: SiteQuality
SIO_000300: 1.084e1

GenotypeQuality
all individuals: 384
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 9.75e1
variant carriers: 29

GenotypeQuality
all individuals: 545
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7140
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.023541453428864e-4
allele num: 9770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.352015915943921e-4
allele num: 64338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.394e1

VQSLOD
type: SiteQuality
SIO_000300: 5.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 1.48938e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 34897
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7190
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1823
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.749781277340332e-4
allele num: 11430
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.184553423359394e-4
allele num: 8442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15838
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.22e0

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

FS
type: SiteQuality
SIO_000300: 6.297e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

DP
type: SiteQuality
SIO_000300: 1.477372e6

GenotypeQuality
all individuals: 657
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1868
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32743
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1817
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 353
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560549313358302e-5
allele num: 64080
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.08e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

MQRankSum
type: SiteQuality
SIO_000300: 8.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-1

DP
type: SiteQuality
SIO_000300: 1.463704e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.308e0

QD
type: SiteQuality
SIO_000300: 1.271e1

GenotypeQuality
all individuals: 7057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.358087487283825e-5
allele num: 15728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64024
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.46329e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.056e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.324e0

VQSLOD
type: SiteQuality
SIO_000300: -9.917e-1

GenotypeQuality
all individuals: 33181
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1804
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 1.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.253020486779899e-4
allele num: 11422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15686
num of homozygotes: 0

African
type: Population
allele count: 91
allele frequency: 9.389186958316137e-3
allele num: 9692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.187431642761164e-4
allele num: 64002
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

QD
type: SiteQuality
SIO_000300: 1.367e1

VQSLOD
type: SiteQuality
SIO_000300: 5.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

DP
type: SiteQuality
SIO_000300: 1.463966e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 196
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1940
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2201
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22357
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.591241805104704e-5
allele num: 62844
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.334935255640101e-4
allele num: 14982
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.41128e6

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 9.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

QD
type: SiteQuality
SIO_000300: 1.189e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-2

GenotypeQuality
all individuals: 2637
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20922
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1936
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variant carriers: 0

GenotypeQuality
all individuals: 3175
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
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variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 7.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.821453775582216e-5
allele num: 11336
num of homozygotes: 0

African
type: Population
allele count: 70
allele frequency: 7.570841444949167e-3
allele num: 9246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14920
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 1.406861e6

FS
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.373e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 620
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variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19704
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4820
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.194457716196847e-4
allele num: 8372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62548
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: 8.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.471e0

DP
type: SiteQuality
SIO_000300: 1.405973e6

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

GenotypeQuality
all individuals: 14
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1712
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2133
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4266
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50694
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7108
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4806
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.394311210262131e-4
allele num: 7172
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 2.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e-1

MQ
type: SiteQuality
SIO_000300: 5.801e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

East Asian
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allele 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

Latino
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allele count: 2
allele frequency: 2.143622722400857e-4
allele num: 9330
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 50602
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

DP
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4626
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 2.025685694607625e-5
allele num: 49366
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 630
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Latino
type: Population
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 9.00402e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7014
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4626
num of homozygotes: 0

South Asian
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allele frequency: 1.115075825156111e-4
allele num: 8968
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Other
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allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6854
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 49366
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9122
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8966
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4602
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 6856
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.415914883288159e-4
allele num: 49438
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 626
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.212e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.84e-1

FS
type: SiteQuality
SIO_000300: 9.911e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 8.98393e5

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 1
allele frequency: 1.235483073881888e-4
allele num: 8094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6738
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6336
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4156
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.262029578485275e-5
allele num: 46926
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

DP
type: SiteQuality
SIO_000300: 8.60323e5

QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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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variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.135474502434441e-5
allele num: 46828
num of homozygotes: 0

East Asian
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allele num: 6728
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 3.70187561697927e-4
allele num: 8104
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 3
allele frequency: 4.757373929590866e-4
allele num: 6306
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.76056338028169e-3
allele num: 568
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.92e-1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 8.62486e5

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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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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Other
type: Population
allele count: 0
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allele num: 556
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South Asian
type: Population
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African
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allele frequency: 1.611863313990974e-4
allele num: 6204
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European (Finnish)
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
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MQRankSum
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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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South Asian
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num of homozygotes: 0

East Asian
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African
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.165064518922664e-5
allele num: 46188
num of homozygotes: 0

European (Finnish)
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allele num: 3928
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Other
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allele num: 550
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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MQ
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ClippingRankSum
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VQSLOD
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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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Other
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Latino
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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East Asian
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ReadPosRankSum
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BaseQRankSum
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DP
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MQ
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InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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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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African
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South Asian
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European (Non-Finnish)
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num of homozygotes: 0

Latino
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European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 1.492537313432836e-4
allele num: 6700
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VQSLOD
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MQRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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FS
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ClippingRankSum
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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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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.304461257500652e-4
allele num: 7666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6098
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

MQ
type: SiteQuality
SIO_000300: 5.906e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.69105e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.168e1

GenotypeQuality
all individuals: 14774
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4152
bin: 7.5e0
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GenotypeQuality
all individuals: 180
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 868
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.65016501650165e-4
allele num: 6060
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.397924179787141e-5
allele num: 45476
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

QD
type: SiteQuality
SIO_000300: 1.386e1

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.55e-1

DP
type: SiteQuality
SIO_000300: 8.67602e5

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.462e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

GenotypeQuality
all individuals: 1304
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 789
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 15376
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 2
allele frequency: 2.409638554216867e-4
allele num: 8300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.661e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.228e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 8.63028e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeQuality
all individuals: 4267
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 440
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3430
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3591
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43712
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7742
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.196e0

FS
type: SiteQuality
SIO_000300: 2.251e0

DP
type: SiteQuality
SIO_000300: 8.50881e5

VQSLOD
type: SiteQuality
SIO_000300: -2.868e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.196e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.33e-1

GenotypeQuality
all individuals: 15463
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4307
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42680
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.492522432701894e-4
allele num: 8024
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

South Asian
type: Population
allele count: 25
allele frequency: 3.269683494637719e-3
allele num: 7646
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 8.49256e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.111e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.66e-1

QD
type: SiteQuality
SIO_000300: 8.369999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

GenotypeQuality
all individuals: 244
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23278
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1895
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4322
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.969936341248084e-5
allele num: 43042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7752
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.008e1

FS
type: SiteQuality
SIO_000300: 2.463e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 8.40852e5

MQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1895
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3550
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13799
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5538
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.289989680082559e-4
allele num: 7752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43042
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3186
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.463e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

DP
type: SiteQuality
SIO_000300: 8.40852e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.008e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.12e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2825
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.25281884239539e-4
allele num: 7982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5436
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.126e-1

FS
type: SiteQuality
SIO_000300: 6.195e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.79e-1

QD
type: SiteQuality
SIO_000300: 6.99e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.50655e5

GenotypeQuality
all individuals: 24295
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1356
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.668970025212438e-5
allele num: 42836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7982
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.79e-1

FS
type: SiteQuality
SIO_000300: 6.195e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.126e-1

DP
type: SiteQuality
SIO_000300: 8.50655e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.02e-1

GenotypeQuality
all individuals: 3084
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 4.75e1
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GenotypeQuality
all individuals: 24
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1408
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2784
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.25250501002004e-4
allele num: 7984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.699e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.922e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

QD
type: SiteQuality
SIO_000300: 1.144e1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

DP
type: SiteQuality
SIO_000300: 8.50033e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

GenotypeQuality
all individuals: 18335
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
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variant carriers: 0

GenotypeQuality
all individuals: 24374
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42736
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.258494840171155e-4
allele num: 7946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3116
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 1.25250501002004e-3
allele num: 7984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.860000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.699e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.50033e5

MQ
type: SiteQuality
SIO_000300: 5.922e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

QD
type: SiteQuality
SIO_000300: 1.144e1

GenotypeQuality
all individuals: 13
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 922
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.444868221602856e-5
allele num: 40902
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 8.28787e5

QD
type: SiteQuality
SIO_000300: 8.33e0

VQSLOD
type: SiteQuality
SIO_000300: -5.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 462
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.444868221602856e-5
allele num: 40902
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 8.33e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.08e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 8.28787e5

GenotypeQuality
all individuals: 681
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5080
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.464754017549049e-5
allele num: 40572
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

QD
type: SiteQuality
SIO_000300: 1.107e1

DP
type: SiteQuality
SIO_000300: 8.24165e5

GenotypeQuality
all individuals: 117
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3071
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27175
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.54427030327702e-5
allele num: 39304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4930
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 8.01176e5

VQSLOD
type: SiteQuality
SIO_000300: -3.443e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.892e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.252e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

GenotypeQuality
all individuals: 1150
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
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variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13723
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.680107526881721e-4
allele num: 5952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38812
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.656e0

MQRankSum
type: SiteQuality
SIO_000300: -1.592e0

QD
type: SiteQuality
SIO_000300: 1.656e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.066e0

DP
type: SiteQuality
SIO_000300: 7.92886e5

FS
type: SiteQuality
SIO_000300: 3.541e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.22e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.496e0

GenotypeQuality
all individuals: 10
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 3.75e1
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GenotypeQuality
all individuals: 1090
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.608378110490897e-5
allele num: 38338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7048
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.336e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

QD
type: SiteQuality
SIO_000300: 8.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

MQ
type: SiteQuality
SIO_000300: 5.777e1

VQSLOD
type: SiteQuality
SIO_000300: -1.749e0

DP
type: SiteQuality
SIO_000300: 7.88666e5

BaseQRankSum
type: SiteQuality
SIO_000300: -8.78e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 172
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GenotypeQuality
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GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 1

GenotypeQuality
all individuals: 1030
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.615746795710175e-5
allele num: 38230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.774e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.628e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.31e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.84e-1

QD
type: SiteQuality
SIO_000300: 9.19e0

DP
type: SiteQuality
SIO_000300: 7.91728e5

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 32
bin: 9.75e1
variant carriers: 24

GenotypeQuality
all individuals: 94
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 5
allele frequency: 8.771929824561404e-4
allele num: 5700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.704895861509332e-5
allele num: 36970
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4678
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 4.622140050843541e-4
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.914016489988221e-3
allele num: 6792
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

DP
type: SiteQuality
SIO_000300: 7.64714e5

FS
type: SiteQuality
SIO_000300: 4.086e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.34e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.49e-1

QD
type: SiteQuality
SIO_000300: 1.138e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 630
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GenotypeQuality
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GenotypeQuality
all individuals: 11216
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.142857142857143e-4
allele num: 8750
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.018412315122246e-4
allele num: 6626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.304728158564943e-5
allele num: 36124
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.571e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.53e-1

QD
type: SiteQuality
SIO_000300: 9.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

DP
type: SiteQuality
SIO_000300: 7.52098e5

GenotypeQuality
all individuals: 700
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 11459
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GenotypeQuality
all individuals: 2730
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 872
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GenotypeQuality
all individuals: 87
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.804734391653111e-5
allele num: 35654
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.901e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

DP
type: SiteQuality
SIO_000300: 7.43758e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-1

FS
type: SiteQuality
SIO_000300: 5.604e0

QD
type: SiteQuality
SIO_000300: 8.24e0

GenotypeQuality
all individuals: 1412
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5135
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11459
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4508
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.123848055742864e-4
allele num: 8898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.901e1

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

DP
type: SiteQuality
SIO_000300: 7.43758e5

VQSLOD
type: SiteQuality
SIO_000300: -1.327e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

QD
type: SiteQuality
SIO_000300: 8.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-1

FS
type: SiteQuality
SIO_000300: 5.604e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-1

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2788
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5360
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.106439477760567e-4
allele num: 9038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2288
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.41e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.823e0

QD
type: SiteQuality
SIO_000300: 1.56e1

DP
type: SiteQuality
SIO_000300: 7.22503e5

MQ
type: SiteQuality
SIO_000300: 5.884e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.437e0

FS
type: SiteQuality
SIO_000300: 4.559e0

GenotypeQuality
all individuals: 805
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30573
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3305
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.829544129649061e-5
allele num: 34308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2276
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 7.19063e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.42e-2

QD
type: SiteQuality
SIO_000300: 1.119e1

VQSLOD
type: SiteQuality
SIO_000300: 6.96e-1

GenotypeQuality
all individuals: 548
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1494
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8064
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.068990915786889e-5
allele num: 32584
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.21483942414175e-4
allele num: 9030
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.4005e1

QD
type: SiteQuality
SIO_000300: 8.9e0

VQSLOD
type: SiteQuality
SIO_000300: -1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.56e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.339e0

DP
type: SiteQuality
SIO_000300: 6.96785e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

GenotypeQuality
all individuals: 10
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6799
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 2969
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5106
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3670
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4334
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 6.41889e5

QD
type: SiteQuality
SIO_000300: 5.29e0

FS
type: SiteQuality
SIO_000300: 3.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.94e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -1.341e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.59660480506402e-5
allele num: 27804
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.585e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.787e0

DP
type: SiteQuality
SIO_000300: 6.43872e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.99e-2

QD
type: SiteQuality
SIO_000300: 2.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.48e0

GenotypeQuality
all individuals: 1197
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 1

GenotypeQuality
all individuals: 6607
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.707273670942389e-5
allele num: 26974
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4218
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.397e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.01e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.27e0

DP
type: SiteQuality
SIO_000300: 6.31433e5

GenotypeQuality
all individuals: 64
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 6024
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 2412
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.191895113230036e-3
allele num: 3356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1452
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.13521e5

QD
type: SiteQuality
SIO_000300: 1.208e1

VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.926e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.15e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0