12-49908416-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49908416
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49908416
    reference: chr 12
allele count: 1
allele frequency: 9.287293125545628e-6
allele num: 107674
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.898+20A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.898+20A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.172+20A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.898+20A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*54+20A>G
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18204
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6821
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

12-49908422-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49908422
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49908422
    reference: chr 12
allele count: 1
allele frequency: 9.34212738924908e-6
allele num: 107042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*54+26G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.898+26G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.898+26G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.898+26G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.172+26G>A
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11938
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2403
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-49908425-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49908425
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49908425
    reference: chr 12
allele count: 1
allele frequency: 9.412473409762618e-6
allele num: 106242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.898+29A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*54+29A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.172+29A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.898+29A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.898+29A>G
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6818
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5209
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD

12-49908428-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49908428
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49908428
    reference: chr 12
allele count: 1
allele frequency: 9.474900987284683e-6
allele num: 105542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*54+32A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.898+32A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.898+32A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.172+32A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.898+32A>G
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12755
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5746
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11963
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3814
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3775
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ

12-49908430-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49908430
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49908430
    reference: chr 12
allele count: 1
allele frequency: 9.508595770576601e-6
allele num: 105168
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.898+34C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.172+34C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.898+34C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*54+34C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.898+34C>T
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15020
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5876
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4018
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6818
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12094
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

12-49908434-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49908434
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49908434
    reference: chr 12
allele count: 6
allele frequency: 5.756389592447617e-5
allele num: 104232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.172+38A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.898+38A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.898+38A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*54+38A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.898+38A>G
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9727
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11775
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3971
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12898
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP

12-49908439-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49908439
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49908440
    reference: chr 12
allele count: 2
allele frequency: 1.946244720811195e-5
allele num: 102762
alternate allele: TA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.898+44dupA
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*54+44dupA
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.172+44dupA
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.898+44dupA
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.898+44dupA
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14598
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8751
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12085
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6574
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6817
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5460
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10870
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-49908440-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49908440
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49908440
    reference: chr 12
allele count: 10
allele frequency: 9.73444435791605e-5
allele num: 102728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.172+44A>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.898+44A>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*54+44A>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.898+44A>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.898+44A>C
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12062
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8097
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14525
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8877
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4036
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10781
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2418
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5508
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9084
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

12-49908441-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49908441
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49908441
    reference: chr 12
allele count: 2
allele frequency: 1.955110659263314e-5
allele num: 102296
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.898+45G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.172+45G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.898+45G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.898+45G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*54+45G>A
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14392
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6627
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4044
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5569
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3537
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6816
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8254
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

12-49908447-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49908447
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49908447
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 100060
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*54+51A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.898+51A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.898+51A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.898+51A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.172+51A>G
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4040
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6657
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3269
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP

12-49912813-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912813
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912814
    reference: chr 12
allele count: 1
allele frequency: 9.097691006022672e-6
allele num: 109918
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*55-43_*55-42insG
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3721_173-3720insG
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.899-43_899-42insG
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.899-43_899-42insG
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.899-43_899-42insG
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14829
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6582
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6388
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS

12-49912814-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912814
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912814
    reference: chr 12
allele count: 1
allele frequency: 9.087934857682939e-6
allele num: 110036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*55-42T>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.899-42T>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3720T>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.899-42T>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.899-42T>A
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14560
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23670
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5898
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-49912816-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912816
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912816
    reference: chr 12
allele count: 1
allele frequency: 9.082652134423252e-6
allele num: 110100
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.899-40T>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3718T>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.899-40T>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.899-40T>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*55-40T>A
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7165
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5738
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25975
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5935
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

12-49912826-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912826
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912826
    reference: chr 12
allele count: 4
allele frequency: 3.561697505030898e-5
allele num: 112306
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.899-30A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3708A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*55-30A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.899-30A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.899-30A>G
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32676
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3575
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4972
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-49912842-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912842
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912842
    reference: chr 12
allele count: 1
allele frequency: 8.58000858000858e-6
allele num: 116550
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3692C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.899-14C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*55-14C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.899-14C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.899-14C>T
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-49912864-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912864
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912864
    reference: chr 12
allele count: 1
allele frequency: 8.360924383799873e-6
allele num: 119604
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.907T>G
  hgvsp: ENSP00000326841.6:p.Leu303Val
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*63T>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.907T>G
  hgvsp: ENSP00000447947.1:p.Leu303Val
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3670T>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.907T>G
  hgvsp: ENSP00000448228.1:p.Leu303Val
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu303Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS

12-49912867-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912867
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912867
    reference: chr 12
allele count: 1
allele frequency: 8.351149118118652e-6
allele num: 119744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*66C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.910C>T
  hgvsp: ENSP00000448228.1:p.Leu304Phe
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3667C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.910C>T
  hgvsp: ENSP00000447947.1:p.Leu304Phe
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.910C>T
  hgvsp: ENSP00000326841.6:p.Leu304Phe
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu304Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

12-49912868-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912868
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912868
    reference: chr 12
allele count: 1
allele frequency: 8.343902276216541e-6
allele num: 119848
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.911T>G
  hgvsp: ENSP00000448228.1:p.Leu304Arg
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3666T>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.911T>G
  hgvsp: ENSP00000447947.1:p.Leu304Arg
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.911T>G
  hgvsp: ENSP00000326841.6:p.Leu304Arg
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*67T>G
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49072
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu304Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

12-49912884-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912884
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912884
    reference: chr 12
allele count: 3
allele frequency: 2.49003984063745e-5
allele num: 120480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*83G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.927G>A
  hgvsp: ENST00000553127.1:c.927G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.927G>A
  hgvsp: ENST00000321898.6:c.927G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3650G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.927G>A
  hgvsp: ENST00000552918.1:c.927G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49764
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys309Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-49912891-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912891
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912891
    reference: chr 12
allele count: 1
allele frequency: 8.29476268683953e-6
allele num: 120558
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.934C>A
  hgvsp: ENSP00000448228.1:p.Leu312Ile
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*90C>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.934C>A
  hgvsp: ENSP00000326841.6:p.Leu312Ile
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3643C>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.934C>A
  hgvsp: ENSP00000447947.1:p.Leu312Ile
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4284
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu312Ile
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

http://identifiers.org/exac.variant/12-49912894-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912894
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912894
    reference: chr 12
allele count: 1
allele frequency: 8.294212298657997e-6
allele num: 120566
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.937C>A
  hgvsp: ENSP00000448228.1:p.Leu313Ile
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.937C>A
  hgvsp: ENSP00000326841.6:p.Leu313Ile
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.937C>A
  hgvsp: ENSP00000447947.1:p.Leu313Ile
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*93C>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3640C>A
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu313Ile
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

12-49912903-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912903
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912903
    reference: chr 12
allele count: 1
allele frequency: 8.295037908323241e-6
allele num: 120554
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.946A>G
  hgvsp: ENSP00000326841.6:p.Met316Val
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.946A>G
  hgvsp: ENSP00000447947.1:p.Met316Val
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3631A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*102A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.946A>G
  hgvsp: ENSP00000448228.1:p.Met316Val
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met316Val
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: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/12-49912910-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912910
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912910
    reference: chr 12
allele count: 1
allele frequency: 8.300132802124834e-6
allele num: 120480
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.953A>C
  hgvsp: ENSP00000326841.6:p.His318Pro
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.953A>C
  hgvsp: ENSP00000447947.1:p.His318Pro
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.953A>C
  hgvsp: ENSP00000448228.1:p.His318Pro
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*109A>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3624A>C
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 665
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 759
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4279
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His318Pro
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP

12-49912913-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912913
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912913
    reference: chr 12
allele count: 2
allele frequency: 1.660688189185599e-5
allele num: 120432
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.956T>C
  hgvsp: ENSP00000447947.1:p.Val319Ala
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.956T>C
  hgvsp: ENSP00000326841.6:p.Val319Ala
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*112T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3621T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.956T>C
  hgvsp: ENSP00000448228.1:p.Val319Ala
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val319Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-49912914-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912914
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912914
    reference: chr 12
allele count: 1
allele frequency: 8.305233958440609e-6
allele num: 120406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3620G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.957G>A
  hgvsp: ENST00000552918.1:c.957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*113G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.957G>A
  hgvsp: ENST00000553127.1:c.957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.957G>A
  hgvsp: ENST00000321898.6:c.957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val319Val
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: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

12-49912919-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912919
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912919
    reference: chr 12
allele count: 1
allele frequency: 8.316976612661764e-6
allele num: 120236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3615T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.962T>C
  hgvsp: ENSP00000447947.1:p.Val321Ala
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*118T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.962T>C
  hgvsp: ENSP00000326841.6:p.Val321Ala
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.962T>C
  hgvsp: ENSP00000448228.1:p.Val321Ala
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val321Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/12-49912931-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912931
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912931
    reference: chr 12
allele count: 2
allele frequency: 1.669923016548937e-5
allele num: 119766
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.974A>C
  hgvsp: ENSP00000448228.1:p.Glu325Ala
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*130A>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3603A>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.974A>C
  hgvsp: ENSP00000326841.6:p.Glu325Ala
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.974A>C
  hgvsp: ENSP00000447947.1:p.Glu325Ala
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4209
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu325Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

12-49912938-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912938
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912938
    reference: chr 12
allele count: 2
allele frequency: 1.67709259228202e-5
allele num: 119254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*137A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3596A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.981A>G
  hgvsp: ENST00000553127.1:c.981A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.981A>G
  hgvsp: ENST00000321898.6:c.981A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.981A>G
  hgvsp: ENST00000552918.1:c.981A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13870
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln327Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-49912942-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912942
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912942
    reference: chr 12
allele count: 2
allele frequency: 1.686681959249764e-5
allele num: 118576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.985G>A
  hgvsp: ENSP00000326841.6:p.Val329Ile
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.985G>A
  hgvsp: ENSP00000448228.1:p.Val329Ile
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.985G>A
  hgvsp: ENSP00000447947.1:p.Val329Ile
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*141G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3592G>A
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13868
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val329Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS

12-49912964-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912964
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912964
    reference: chr 12
allele count: 1
allele frequency: 8.917901796065422e-6
allele num: 112134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1007A>T
  hgvsp: ENSP00000447947.1:p.Lys336Met
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*163A>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1007A>T
  hgvsp: ENSP00000448228.1:p.Lys336Met
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1007A>T
  hgvsp: ENSP00000326841.6:p.Lys336Met
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3570A>T
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30355
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys336Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-49912965-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912965
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912965
    reference: chr 12
allele count: 1
allele frequency: 8.961537082840449e-6
allele num: 111588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1008G>A
  hgvsp: ENST00000552918.1:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1008G>A
  hgvsp: ENST00000553127.1:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*164G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3569G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1008G>A
  hgvsp: ENST00000321898.6:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9744
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1008G>A
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

12-49912983-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912983
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912983
    reference: chr 12
allele count: 1
allele frequency: 9.793168285803823e-6
allele num: 102112
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1008+18T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1008+18T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3551T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*164+18T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1008+18T>C
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14656
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-49912988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912988
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912988
    reference: chr 12
allele count: 2
allele frequency: 1.982828703428311e-5
allele num: 100866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1008+23G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*164+23G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1008+23G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1008+23G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3546G>A
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13725
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18145
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4269
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21863
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

12-49912991-TTTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49912991
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49912988
    reference: chr 12
allele count: 1
allele frequency: 1.00780037490174e-5
allele num: 99226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*164+32_*164+34delCTT
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1008+32_1008+34delCTT
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1008+32_1008+34delCTT
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1008+32_1008+34delCTT
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3537_173-3535delCTT
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5287
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11282
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22630
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5571
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: TTTC
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/12-49913002-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49913002
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49913002
    reference: chr 12
allele count: 6
allele frequency: 6.3618627534142e-5
allele num: 94312
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1008+37C>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1008+37C>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*164+37C>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3532C>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1008+37C>A
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10775
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24098
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3030
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7514
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4043
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21894
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

12-49913002-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49913002
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49913002
    reference: chr 12
allele count: 1
allele frequency: 1.060310458902367e-5
allele num: 94312
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1008+37C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1008+37C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*164+37C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3532C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1008+37C>T
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9310
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24098
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10775
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21894
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5694
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7514
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3030
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4043
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

12-49913005-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49913005
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49913003
    reference: chr 12
allele count: 1
allele frequency: 1.09186993645317e-5
allele num: 91586
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3528_173-3527delAG
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*164+41_*164+42delAG
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1008+41_1008+42delAG
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1008+41_1008+42delAG
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1008+41_1008+42delAG
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23358
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4527
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20653
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7757
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: CAG
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

12-49913010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49913010
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49913010
    reference: chr 12
allele count: 1
allele frequency: 1.189088920069443e-5
allele num: 84098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1008+45G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3524G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1008+45G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*164+45G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1008+45G>A
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14879
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20749
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4357
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3111
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5587
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4960
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

12-49913016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49913016
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49913016
    reference: chr 12
allele count: 1
allele frequency: 1.241773252204147e-5
allele num: 80530
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1008+51G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-3518G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1008+51G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*164+51G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1008+51G>A
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16137
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19822
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3984
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5570
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7854
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4986
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13927
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3423
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

12-49916483-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916483
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916483
    reference: chr 12
allele count: 1
allele frequency: 8.98391878537418e-6
allele num: 111310
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1009-51C>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-51C>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*165-51C>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1009-51C>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1009-51C>G
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15741
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4891
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5933
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

12-49916487-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916487
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916487
    reference: chr 12
allele count: 2
allele frequency: 1.793175175282873e-5
allele num: 111534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1009-47G>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1009-47G>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-47G>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*165-47G>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1009-47G>T
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12936
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14897
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5640
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4854
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

12-49916488-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916488
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916488
    reference: chr 12
allele count: 3
allele frequency: 2.685621184179901e-5
allele num: 111706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1009-46G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*165-46G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1009-46G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1009-46G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-46G>A
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15594
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12263
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4828
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4673
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5601
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2937
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genotype quality: GenotypeQuality
  all individuals: 1146
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genotype quality: GenotypeQuality
  all individuals: 4183
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17251
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

12-49916491-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916491
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916491
    reference: chr 12
allele count: 1
allele frequency: 8.933516768210974e-6
allele num: 111938
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1009-43G>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1009-43G>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1009-43G>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-43G>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*165-43G>T
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17866
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9995
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3544
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 615
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genotype quality: GenotypeQuality
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  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
  all individuals: 20188
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

12-49916492-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916492
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916492
    reference: chr 12
allele count: 1
allele frequency: 8.922198429693077e-6
allele num: 112080
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1009-42T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1009-42T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1009-42T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*165-42T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-42T>C
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11669
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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
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4339
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4722
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2754
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5357
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4673
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

12-49916497-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916497
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916497
    reference: chr 12
allele count: 1
allele frequency: 8.892683100345036e-6
allele num: 112452
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-37T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1009-37T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1009-37T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*165-37T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1009-37T>C
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4724
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4677
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4481
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

12-49916502-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916502
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916502
    reference: chr 12
allele count: 1
allele frequency: 8.850810734263259e-6
allele num: 112984
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1009-32A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1009-32A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*165-32A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1009-32A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-32A>G
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3791
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29544
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4675
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

12-49916507-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916507
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916507
    reference: chr 12
allele count: 3
allele frequency: 2.631578947368421e-5
allele num: 114000
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1009-27G>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*165-27G>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1009-27G>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-27G>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1009-27G>C
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9863
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30018
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
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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
  all individuals: 620
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genotype quality: GenotypeQuality
  all individuals: 422
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3976
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

12-49916509-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916509
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916509
    reference: chr 12
allele count: 1
allele frequency: 8.728288382648164e-6
allele num: 114570
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1009-25A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*165-25A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1009-25A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-25A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1009-25A>G
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36066
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-49916511-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916511
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916512
    reference: chr 12
allele count: 1
allele frequency: 8.691419830343484e-6
allele num: 115056
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1009-21dupC
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-21dupC
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*165-21dupC
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1009-21dupC
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1009-21dupC
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31616
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4679
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36621
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

12-49916512-CCTTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916512
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916508
    reference: chr 12
allele count: 1
allele frequency: 8.669417761903111e-6
allele num: 115348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-17_173-14delCTTT
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1009-17_1009-14delCTTT
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1009-17_1009-14delCTTT
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*165-17_*165-14delCTTT
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1009-17_1009-14delCTTT
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32029
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37526
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4678
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: CCTTT
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-49916514-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916514
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916514
    reference: chr 12
allele count: 1
allele frequency: 8.618163641691228e-6
allele num: 116034
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1009-20T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*165-20T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.173-20T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1009-20T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1009-20T>C
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

12-49916536-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916536
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916536
    reference: chr 12
allele count: 1
allele frequency: 8.312690152787244e-6
allele num: 120298
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1011C>T
  hgvsp: ENST00000553127.1:c.1011C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*167C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.5C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1011C>T
  hgvsp: ENST00000552918.1:c.1011C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.175C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1011C>T
  hgvsp: ENST00000321898.6:c.1011C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1011C>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

12-49916539-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916539
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916539
    reference: chr 12
allele count: 4
allele frequency: 3.318785988085559e-5
allele num: 120526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1014T>C
  hgvsp: ENST00000321898.6:c.1014T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1014T>C
  hgvsp: ENST00000552918.1:c.1014T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1014T>C
  hgvsp: ENST00000553127.1:c.1014T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*170T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.8T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.178T>C
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4679
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45083
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe338Phe
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

12-49916545-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916545
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916545
    reference: chr 12
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1020T>C
  hgvsp: ENST00000553127.1:c.1020T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.14T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*176T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1020T>C
  hgvsp: ENST00000321898.6:c.1020T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.184T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1020T>C
  hgvsp: ENST00000552918.1:c.1020T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser340Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

12-49916550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916550
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916550
    reference: chr 12
allele count: 2
allele frequency: 1.653685237551884e-5
allele num: 120942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1025G>A
  hgvsp: ENSP00000447947.1:p.Arg342His
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*181G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1025G>A
  hgvsp: ENSP00000326841.6:p.Arg342His
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.189G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1025G>A
  hgvsp: ENSP00000448228.1:p.Arg342His
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.19G>A
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg342His
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-49916554-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916554
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916554
    reference: chr 12
allele count: 1
allele frequency: 8.262004692818665e-6
allele num: 121036
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*185A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.23A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1029A>G
  hgvsp: ENST00000553127.1:c.1029A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.193A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1029A>G
  hgvsp: ENST00000321898.6:c.1029A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1029A>G
  hgvsp: ENST00000552918.1:c.1029A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4678
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys343Lys
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-49916555-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916555
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916555
    reference: chr 12
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1030T>C
  hgvsp: ENSP00000326841.6:p.Tyr344His
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*186T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1030T>C
  hgvsp: ENSP00000448228.1:p.Tyr344His
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1030T>C
  hgvsp: ENSP00000447947.1:p.Tyr344His
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.194T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.24T>C
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4678
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr344His
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

12-49916569-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916569
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916569
    reference: chr 12
allele count: 2
allele frequency: 1.650192247396822e-5
allele num: 121198
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1044G>A
  hgvsp: ENST00000553127.1:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1044G>A
  hgvsp: ENST00000552918.1:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1044G>A
  hgvsp: ENST00000321898.6:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.38G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.208G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*200G>A
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13905
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4680
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu348Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/12-49916573-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916573
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916573
    reference: chr 12
allele count: 2
allele frequency: 1.649811096629436e-5
allele num: 121226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*204C>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.42C>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1048C>A
  hgvsp: ENST00000552918.1:c.1048C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1048C>A
  hgvsp: ENST00000321898.6:c.1048C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1048C>A
  hgvsp: ENST00000553127.1:c.1048C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.212C>A
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4849
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg350Arg
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

12-49916580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916580
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916580
    reference: chr 12
allele count: 2
allele frequency: 1.649593375233005e-5
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1055C>T
  hgvsp: ENSP00000448228.1:p.Ala352Val
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1055C>T
  hgvsp: ENSP00000447947.1:p.Ala352Val
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*211C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1055C>T
  hgvsp: ENSP00000326841.6:p.Ala352Val
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.219C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.49C>T
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13989
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45901
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala352Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ

12-49916583-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916583
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916583
    reference: chr 12
allele count: 2
allele frequency: 1.649430121892886e-5
allele num: 121254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1058G>A
  hgvsp: ENSP00000326841.6:p.Arg353Gln
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.52G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1058G>A
  hgvsp: ENSP00000447947.1:p.Arg353Gln
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*214G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.222G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1058G>A
  hgvsp: ENSP00000448228.1:p.Arg353Gln
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4852
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg353Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-49916604-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916604
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916604
    reference: chr 12
allele count: 5
allele frequency: 4.124595789612618e-5
allele num: 121224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.73C>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1079C>A
  hgvsp: ENSP00000326841.6:p.Thr360Asn
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*235C>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1079C>A
  hgvsp: ENSP00000447947.1:p.Thr360Asn
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.243C>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1079C>A
  hgvsp: ENSP00000448228.1:p.Thr360Asn
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr360Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

12-49916622-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916622
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916622
    reference: chr 12
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1097A>G
  hgvsp: ENSP00000448228.1:p.Asp366Gly
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000548727
  gene symbol: SPATS2
  hgvsc: ENST00000548727.1:n.261A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*253A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1097A>G
  hgvsp: ENSP00000326841.6:p.Asp366Gly
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1097A>G
  hgvsp: ENSP00000447947.1:p.Asp366Gly
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.91A>G
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4672
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4846
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp366Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

12-49916643-T-TGGTGAGAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916643
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916651
    reference: chr 12
allele count: 1
allele frequency: 8.332222370350619e-6
allele num: 120016
alternate allele: TGGTGAGAG
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1111+11_1111+18dupGAGAGGGT
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

12-49916653-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916653
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916653
    reference: chr 12
allele count: 1
allele frequency: 8.398562166157153e-6
allele num: 119068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1111+17G>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*267+17G>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1111+17G>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.105+17G>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1111+17G>T
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29222
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4225
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

12-49916664-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916664
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916664
    reference: chr 12
allele count: 2
allele frequency: 1.69434090138936e-5
allele num: 118040
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1111+28A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1111+28A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*267+28A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.105+28A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1111+28A>G
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21227
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11322
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3473
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4530
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

12-49916665-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916665
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916665
    reference: chr 12
allele count: 1
allele frequency: 8.48032564450475e-6
allele num: 117920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*267+29C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.105+29C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1111+29C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1111+29C>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1111+29C>T
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4667
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff

12-49916666-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916666
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916666
    reference: chr 12
allele count: 4
allele frequency: 3.392015196228079e-5
allele num: 117924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1111+30A>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.105+30A>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*267+30A>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1111+30A>T
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1111+30A>T
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7803
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4726
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4669
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26813
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

12-49916667-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916667
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916667
    reference: chr 12
allele count: 1
allele frequency: 8.490550017830155e-6
allele num: 117778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1111+31G>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*267+31G>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.105+31G>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1111+31G>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1111+31G>C
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20281
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10749
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3612
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6540
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4978
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

12-49916670-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916670
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916670
    reference: chr 12
allele count: 45
allele frequency: 3.833441237605207e-4
allele num: 117388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.105+34G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1111+34G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*267+34G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1111+34G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1111+34G>A
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10162
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 10345
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10310
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18681
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5557
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6689
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4279
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-49916671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916671
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916671
    reference: chr 12
allele count: 1
allele frequency: 8.517742457539054e-6
allele num: 117402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1111+35G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*267+35G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1111+35G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.105+35G>A
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1111+35G>A
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18103
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5771
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4669
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6776
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4593
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22736
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

12-49916672-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916672
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916672
    reference: chr 12
allele count: 641
allele frequency: 5.469096617862872e-3
allele num: 117204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*267+36T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.105+36T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1111+36T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1111+36T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1111+36T>C
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 10459
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 9506
  bin: 2.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12410
  bin: 1.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 3.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 17052
  bin: 2.25e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 9.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6030
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5131
  bin: 9.75e1
  variant carriers: 608
genotype quality: GenotypeQuality
  all individuals: 6761
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5050
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 9.25e1
  variant carriers: 3
num of homozygotes: 19
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS

12-49916676-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916676
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916676
    reference: chr 12
allele count: 1
allele frequency: 8.564576909900651e-6
allele num: 116760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.105+40T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1111+40T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1111+40T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*267+40T>C
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1111+40T>C
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5961
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

12-49916684-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49916684
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49916684
    reference: chr 12
allele count: 1
allele frequency: 8.677391923083599e-6
allele num: 115242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448459
  ensembl transcript: ENST00000549412
  gene symbol: SPATS2
  hgvsc: ENST00000549412.1:c.*267+48A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000447947
  ensembl transcript: ENST00000552918
  gene symbol: SPATS2
  hgvsc: ENST00000552918.1:c.1111+48A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl transcript: ENST00000547003
  gene symbol: SPATS2
  hgvsc: ENST00000547003.1:n.105+48A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000326841
  ensembl transcript: ENST00000321898
  gene symbol: SPATS2
  hgvsc: ENST00000321898.6:c.1111+48A>G
  variant of: http://identifiers.org/hgnc/18650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123352
  ensembl protein: ENSP00000448228
  ensembl transcript: ENST00000553127
  gene symbol: SPATS2
  hgvsc: ENST00000553127.1:c.1111+48A>G
  variant of: http://identifiers.org/hgnc/18650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10277
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 535
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11477
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.760005632018022e-5
allele num: 56818
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15060
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

QD
type: SiteQuality
SIO_000300: 1.679e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.36e-1

FS
type: SiteQuality
SIO_000300: 2.831e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e-1

DP
type: SiteQuality
SIO_000300: 1.52862e6

GenotypeQuality
all individuals: 1308
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21462
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6819
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.662225183211193e-5
allele num: 15010
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.878e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.362e0

DP
type: SiteQuality
SIO_000300: 1.509047e6

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

QD
type: SiteQuality
SIO_000300: 1.255e1

VQSLOD
type: SiteQuality
SIO_000300: -4.568e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.362e0

GenotypeQuality
all individuals: 1041
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2486
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6268
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.688963210702341e-5
allele num: 14950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10790
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

DP
type: SiteQuality
SIO_000300: 1.478663e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.068e0

QD
type: SiteQuality
SIO_000300: 1.142e1

GenotypeQuality
all individuals: 1026
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15790
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6820
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2376
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9444
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14904
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.238236750866766e-4
allele num: 8076
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.460577e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.216e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

QD
type: SiteQuality
SIO_000300: 2.162e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 478
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3837
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55042
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14872
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.062473438164046e-4
allele num: 9412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10730
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.512e0

FS
type: SiteQuality
SIO_000300: 2.146e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.307e0

MQRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

QD
type: SiteQuality
SIO_000300: 1.546e1

DP
type: SiteQuality
SIO_000300: 1.453609e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: -4.597e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 862
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6820
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4824
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.839790999742429e-5
allele num: 54354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.682524817381532e-4
allele num: 10678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.83e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 5.249e0

DP
type: SiteQuality
SIO_000300: 1.427919e6

GenotypeQuality
all individuals: 4022
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.873782041672913e-5
allele num: 53368
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14726
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.080146899978397e-4
allele num: 9258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.404544e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

QD
type: SiteQuality
SIO_000300: 1.122e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

GenotypeQuality
all individuals: 2046
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6821
bin: 9.75e1
variant carriers: 11

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6605
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6176
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.157031924072476e-4
allele num: 9272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.499981250234372e-4
allele num: 53334
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14730
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

DP
type: SiteQuality
SIO_000300: 1.402512e6

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.241e0

GenotypeQuality
all individuals: 1024
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2525
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 889
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10550
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.0827197921178e-4
allele num: 9236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.885796183148525e-5
allele num: 53028
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

QD
type: SiteQuality
SIO_000300: 1.088e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.106e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

DP
type: SiteQuality
SIO_000300: 1.399637e6

GenotypeQuality
all individuals: 5659
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6817
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variant carriers: 0

GenotypeQuality
all individuals: 4754
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7644
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6094
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.645e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.583e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.391503e6

GenotypeQuality
all individuals: 5841
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2482
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 209
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variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.070135746606335e-5
allele num: 14144
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 5.604e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 1.196e1

VQSLOD
type: SiteQuality
SIO_000300: 5.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

DP
type: SiteQuality
SIO_000300: 1.22723e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 6333
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.071135624381275e-5
allele num: 14142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7814
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.872e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

DP
type: SiteQuality
SIO_000300: 1.234791e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.256e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

QD
type: SiteQuality
SIO_000300: 1.104e1

MQ
type: SiteQuality
SIO_000300: 5.635e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

GenotypeQuality
all individuals: 451
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
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variant carriers: 0

GenotypeQuality
all individuals: 6098
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variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60596
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.068136839129205e-5
allele num: 14148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.256e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 9.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.685e1

DP
type: SiteQuality
SIO_000300: 1.250491e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.95e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 217
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variant carriers: 0

GenotypeQuality
all individuals: 136
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variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.620377872119778e-5
allele num: 61714
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.035822707953856e-4
allele num: 9882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.84e0

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

DP
type: SiteQuality
SIO_000300: 1.354552e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.32e-1

QD
type: SiteQuality
SIO_000300: 1.506e1

GenotypeQuality
all individuals: 696
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
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variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.185114956150747e-4
allele num: 8438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64016
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.721e0

DP
type: SiteQuality
SIO_000300: 1.459104e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

MQRankSum
type: SiteQuality
SIO_000300: 2.87e0

QD
type: SiteQuality
SIO_000300: 1.32e1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.55e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16072
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.713837574067619e-5
allele num: 11476
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

DP
type: SiteQuality
SIO_000300: 1.511134e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.47e-1

QD
type: SiteQuality
SIO_000300: 1.165e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.093e0

GenotypeQuality
all individuals: 325
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 48917
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variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 9.75e1
variant carriers: 1

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

East Asian
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allele frequency: 0.0e0
allele num: 8616
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16114
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Latino
type: Population
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: 10310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
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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MQRankSum
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SIO_000300: -2.23e-1

ReadPosRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 175
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.519710647092794e-5
allele num: 65802
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10318
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 6.444e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.438e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6592
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East Asian
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allele frequency: 3.475440222428174e-4
allele num: 8632
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South Asian
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allele frequency: 0.0e0
allele num: 16312
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66166
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.29e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66214
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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DP
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VQSLOD
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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FS
type: SiteQuality
SIO_000300: 4.1e0

MQRankSum
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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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16336
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10364
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66214
num of homozygotes: 0

Other
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allele num: 906
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East Asian
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allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11522
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DP
type: SiteQuality
SIO_000300: 1.533181e6

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.95e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510300247689241e-5
allele num: 66212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.533512e6

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 7.84e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 906
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10352
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.511944360447535e-5
allele num: 66140
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South Asian
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allele num: 16334
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6594
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East Asian
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South Asian
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Other
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African
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allele frequency: 1.933488012374323e-4
allele num: 10344
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66110
num of homozygotes: 0

FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQ
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MQRankSum
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ClippingRankSum
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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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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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allele num: 66086
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African
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Latino
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Other
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South Asian
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
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FS
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BaseQRankSum
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QD
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MQRankSum
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ClippingRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele num: 65984
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African
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Latino
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Other
type: Population
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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European (Non-Finnish)
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South Asian
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Latino
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allele num: 11482
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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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QD
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16130
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Latino
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African
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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
allele num: 6560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529472943623627e-5
allele num: 65382
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

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

DP
type: SiteQuality
SIO_000300: 1.517967e6

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: -5.936e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-2

QD
type: SiteQuality
SIO_000300: 1.393e1

GenotypeQuality
all individuals: 4110
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64970
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.250312578144536e-4
allele num: 15996
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.24e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

DP
type: SiteQuality
SIO_000300: 1.509422e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10814
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.648052120728626e-5
allele num: 15042
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 1.397856e6

FS
type: SiteQuality
SIO_000300: 2.509e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.075e0

MQ
type: SiteQuality
SIO_000300: 5.886e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.803e0

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.638377351071499e-5
allele num: 61036
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14966
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10748
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.657e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.73e-1

QD
type: SiteQuality
SIO_000300: 1.425e1

DP
type: SiteQuality
SIO_000300: 1.388613e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 4.779e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55598
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.030502885408079e-4
allele num: 9704
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6002
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.904e0

DP
type: SiteQuality
SIO_000300: 1.150724e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.73e-1

QD
type: SiteQuality
SIO_000300: 8.380000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.49e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.24e-1

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: 4821
bin: 3.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.441753171856978e-4
allele num: 13872
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54876
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6806
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.12769e6

MQRankSum
type: SiteQuality
SIO_000300: 8.62e-1

QD
type: SiteQuality
SIO_000300: 1.234e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.557e0

VQSLOD
type: SiteQuality
SIO_000300: 4.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

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: 14939
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8854
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5912
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.853430700226118e-5
allele num: 53954
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-1

MQ
type: SiteQuality
SIO_000300: 5.457e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.415e0

QD
type: SiteQuality
SIO_000300: 1.909e1

DP
type: SiteQuality
SIO_000300: 1.090518e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6120
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.172470395122523e-4
allele num: 51174
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
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DP
type: SiteQuality
SIO_000300: 1.004522e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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Latino
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allele frequency: 0.0e0
allele num: 8872
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.633986928104575e-4
allele num: 6120
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

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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African
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allele frequency: 1.206563706563707e-4
allele num: 8288
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.866e1

MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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allele frequency: 2.11954217888936e-4
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European (Finnish)
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African
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Latino
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Other
type: Population
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European (Non-Finnish)
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ClippingRankSum
type: SiteQuality
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FS
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.124e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.35767e5

GenotypeQuality
all individuals: 3197
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5692
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3720
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4671
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3502
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9850
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.624114857402715e-5
allele num: 61572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7710
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

QD
type: SiteQuality
SIO_000300: 1.458e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

DP
type: SiteQuality
SIO_000300: 1.396104e6

GenotypeQuality
all individuals: 423
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16630
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4159
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.36035913481159e-4
allele num: 14702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9854
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7744
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.75e-2

DP
type: SiteQuality
SIO_000300: 1.409351e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.292e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.616e0

GenotypeQuality
all individuals: 5297
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3492
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.856569319432753e-5
allele num: 61772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.747e0

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.093e-1

DP
type: SiteQuality
SIO_000300: 1.413111e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.77e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.63e-1

GenotypeQuality
all individuals: 2529
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5434
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GenotypeQuality
all individuals: 445
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.614882759511659e-5
allele num: 61924
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7748
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

DP
type: SiteQuality
SIO_000300: 1.426948e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.637e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.666e-1

QD
type: SiteQuality
SIO_000300: 7.69e0

GenotypeQuality
all individuals: 989
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2501
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
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variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9874
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7760
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62024
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.768647624204685e-5
allele num: 14774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.431091e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.346e1

GenotypeQuality
all individuals: 151
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3621
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
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variant carriers: 0

GenotypeQuality
all individuals: 4369
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607045286536175e-5
allele num: 62226
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7778
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: 7.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.141e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.12e-1

DP
type: SiteQuality
SIO_000300: 1.457577e6

GenotypeQuality
all individuals: 3782
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.007658202337767e-4
allele num: 9924
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62516
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.041e1

FS
type: SiteQuality
SIO_000300: 4.488e0

MQRankSum
type: SiteQuality
SIO_000300: 6.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.317e0

DP
type: SiteQuality
SIO_000300: 1.50038e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1487
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2047
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variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4676
bin: 9.75e1
variant carriers: 3

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63108
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.804786836200449e-4
allele num: 10696
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

FS
type: SiteQuality
SIO_000300: 2.172e0

QD
type: SiteQuality
SIO_000300: 1.452e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

DP
type: SiteQuality
SIO_000300: 1.552562e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

GenotypeQuality
all individuals: 2261
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4676
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1224
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variant carriers: 0

GenotypeQuality
all individuals: 604
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variant carriers: 0

GenotypeQuality
all individuals: 1465
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.611133148221606e-5
allele num: 15126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63442
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.113e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

QD
type: SiteQuality
SIO_000300: 1.69e1

DP
type: SiteQuality
SIO_000300: 1.567013e6

GenotypeQuality
all individuals: 1504
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4164
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7952
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.569760140650509e-5
allele num: 63704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.09e-1

QD
type: SiteQuality
SIO_000300: 1.567e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 1.580088e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

MQ
type: SiteQuality
SIO_000300: 6.013e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4206
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GenotypeQuality
all individuals: 522
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variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63888
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.958175662218681e-5
allele num: 10042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7980
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.58811e6

QD
type: SiteQuality
SIO_000300: 1.021e1

MQRankSum
type: SiteQuality
SIO_000300: -1.09e0

MQ
type: SiteQuality
SIO_000300: 5.747e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.237e0

FS
type: SiteQuality
SIO_000300: 1.1863e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4677
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variant carriers: 1

GenotypeQuality
all individuals: 438
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.924573243350536e-5
allele num: 10076
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10970
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

FS
type: SiteQuality
SIO_000300: 2.824e0

DP
type: SiteQuality
SIO_000300: 1.603796e6

MQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

QD
type: SiteQuality
SIO_000300: 1.507e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 190
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4676
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.770391159445712e-5
allele num: 11402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16152
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.413e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.96e-1

QD
type: SiteQuality
SIO_000300: 1.304e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.708e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.57e0

DP
type: SiteQuality
SIO_000300: 1.679242e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
all individuals: 175
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4731
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66440
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.500175008750437e-4
allele num: 11428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

QD
type: SiteQuality
SIO_000300: 1.084e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.18e-1

FS
type: SiteQuality
SIO_000300: 4.894e0

DP
type: SiteQuality
SIO_000300: 1.682474e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

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

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1536
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
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variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45316
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4679
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.718395815170009e-5
allele num: 11470
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.422e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

VQSLOD
type: SiteQuality
SIO_000300: -3.317e-1

FS
type: SiteQuality
SIO_000300: 2.621e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 1.687331e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.891e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4679
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 45512
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variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.223990208078335e-4
allele num: 16340
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.322e1

FS
type: SiteQuality
SIO_000300: 4.363e0

VQSLOD
type: SiteQuality
SIO_000300: 5.38e-1

DP
type: SiteQuality
SIO_000300: 1.69069e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1021
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
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variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.559e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.227e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.692055e6

VQSLOD
type: SiteQuality
SIO_000300: -4.22e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 1023
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 3.519e0

QD
type: SiteQuality
SIO_000300: 1.42e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

DP
type: SiteQuality
SIO_000300: 1.692386e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45876
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 1549
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.484e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.695578e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
SIO_000300: 4.77e-1

QD
type: SiteQuality
SIO_000300: 1.133e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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: 7.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

South Asian
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allele count: 2
allele frequency: 1.216101179618144e-4
allele num: 16446
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 9.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

DP
type: SiteQuality
SIO_000300: 1.696078e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

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

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: 10402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.919999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.696398e6

BaseQRankSum
type: SiteQuality
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FS
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999220202747286e-5
allele num: 66684
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.166e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e-1

DP
type: SiteQuality
SIO_000300: 1.696874e6

VQSLOD
type: SiteQuality
SIO_000300: 8.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 4.806767929244376e-4
allele num: 10402
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.747e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

QD
type: SiteQuality
SIO_000300: 1.183e1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

DP
type: SiteQuality
SIO_000300: 1.696658e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.672e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.589e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

QD
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16136
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511350240304688e-5
allele num: 66166
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.257e0

QD
type: SiteQuality
SIO_000300: 7.76e0

MQ
type: SiteQuality
SIO_000300: 5.092e1

FS
type: SiteQuality
SIO_000300: 3.079e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

DP
type: SiteQuality
SIO_000300: 1.665084e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.244536030972898e-5
allele num: 16014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65678
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

QD
type: SiteQuality
SIO_000300: 1.259e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.554e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.622551e6

VQSLOD
type: SiteQuality
SIO_000300: 7.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65160
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.391772303276728e-4
allele num: 8362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15852
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.177e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.599999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.534848e6

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15804
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: 11094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.823182711198428e-5
allele num: 10180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65106
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.149999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.0e-2

FS
type: SiteQuality
SIO_000300: 6.156e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.53454e6

QD
type: SiteQuality
SIO_000300: 1.495e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

GenotypeQuality
all individuals: 519
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 977
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11088
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.144959596890651e-5
allele num: 65094
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.207e-1

FS
type: SiteQuality
SIO_000300: 1.3382e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.574e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 1.52731e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4668
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variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 9.04649900488511e-5
allele num: 11054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65026
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.73e0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

QD
type: SiteQuality
SIO_000300: 1.674e1

GenotypeQuality
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variant carriers: 45

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 6
allele frequency: 5.449591280653951e-4
allele num: 11010
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.270325203252033e-4
allele num: 15744
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8300
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European (Finnish)
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allele count: 1
allele frequency: 1.540357362908195e-4
allele num: 6492
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European (Non-Finnish)
type: Population
allele count: 36
allele frequency: 5.552299577408309e-4
allele num: 64838
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11002
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542020046260601e-5
allele num: 64850
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

QD
type: SiteQuality
SIO_000300: 1.244e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

Other
type: Population
allele count: 2
allele frequency: 2.28310502283105e-3
allele num: 876
num of homozygotes: 0

African
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allele count: 605
allele frequency: 5.977079628531911e-2
allele num: 10122
num of homozygotes: 19

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

Latino
type: Population
allele count: 27
allele frequency: 2.463953276145282e-3
allele num: 10958
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8264
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European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.080814007349535e-4
allele num: 64766
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-2

DP
type: SiteQuality
SIO_000300: 1.494227e6

VQSLOD
type: SiteQuality
SIO_000300: 6.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.18e-2

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.386e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.897e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2916
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.214771622934888e-4
allele num: 8232
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.4727e6

VQSLOD
type: SiteQuality
SIO_000300: -7.362e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.257e0

QD
type: SiteQuality
SIO_000300: 1.715e1

MQRankSum
type: SiteQuality
SIO_000300: -6.63e-1

FS
type: SiteQuality
SIO_000300: 1.966e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e0