15-45694607-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694607
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694608
    reference: chr 15
allele count: 7
allele frequency: 5.866282285503579e-5
allele num: 119326
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.-21_-20insA
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.-21_-20insA
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.-21_-20insA
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29345
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8585
  bin: 9.75e1
  variant carriers: 7
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS

15-45694607-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694607
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694607
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 119326
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.-21T>G
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.-21T>G
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.-21T>G
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: 5' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 17965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8585
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29345
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

15-45694608-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694608
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694608
    reference: chr 15
allele count: 2
allele frequency: 1.676221127091086e-5
allele num: 119316
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.-20G>T
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.-20G>T
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.-20G>T
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6867
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29355
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

15-45694610-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694610
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694610
    reference: chr 15
allele count: 43575
allele frequency: 3.649925451895532e-1
allele num: 119386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.-18C>T
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.-18C>T
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.-18C>T
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 5.75e1
  variant carriers: 1598
genotype depth: GenotypeDepth
  all individuals: 17274
  bin: 2.75e1
  variant carriers: 4039
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.25e1
  variant carriers: 4238
genotype depth: GenotypeDepth
  all individuals: 10120
  bin: 2.25e1
  variant carriers: 2691
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 3.25e1
  variant carriers: 4954
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.25e1
  variant carriers: 486
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.25e1
  variant carriers: 411
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 754
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 292
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 4.75e1
  variant carriers: 3270
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 3.75e1
  variant carriers: 4874
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.75e1
  variant carriers: 391
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 5.25e1
  variant carriers: 2309
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 190
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 205
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 9.75e1
  variant carriers: 1066
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 1.75e1
  variant carriers: 1251
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 6.25e1
  variant carriers: 1126
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 125
genotype quality: GenotypeQuality
  all individuals: 28385
  bin: 9.75e1
  variant carriers: 28248
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 143
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 5.25e1
  variant carriers: 392
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.25e1
  variant carriers: 188
genotype quality: GenotypeQuality
  all individuals: 20650
  bin: 6.25e1
  variant carriers: 518
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 9.25e1
  variant carriers: 724
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.75e1
  variant carriers: 274
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.25e1
  variant carriers: 133
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 7.75e1
  variant carriers: 678
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.5e0
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.75e1
  variant carriers: 226
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.75e1
  variant carriers: 417
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 101
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 374
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.75e1
  variant carriers: 317
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 6.75e1
  variant carriers: 576
num of homozygotes: 9704
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-45694613-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694613
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694613
    reference: chr 15
allele count: 1
allele frequency: 8.394191219675984e-6
allele num: 119130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.-15G>C
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.-15G>C
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.-15G>C
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7814
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

15-45694617-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694617
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694617
    reference: chr 15
allele count: 1
allele frequency: 8.394754957102802e-6
allele num: 119122
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.-11A>G
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.-11A>G
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.-11A>G
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7802
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum

15-45694624-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694624
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694624
    reference: chr 15
allele count: 39
allele frequency: 3.278468030733536e-4
allele num: 118958
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.-4T>C
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.-4T>C
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.-4T>C
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9279
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30719
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45431
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 25
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genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 138
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 600
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genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 432
  bin: 9.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 7740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

15-45694626-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694626
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694626
    reference: chr 15
allele count: 2
allele frequency: 1.6832749798007e-5
allele num: 118816
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.-2C>T
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.-2C>T
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.-2C>T
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9300
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
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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
  all individuals: 252
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genotype quality: GenotypeQuality
  all individuals: 1648
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genotype quality: GenotypeQuality
  all individuals: 390
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 576
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genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

15-45694627-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694627
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694627
    reference: chr 15
allele count: 1
allele frequency: 8.421761832575375e-6
allele num: 118740
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.-1G>A
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.-1G>A
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.-1G>A
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45216
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

15-45694628-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694628
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694628
    reference: chr 15
allele count: 4
allele frequency: 3.368250867324598e-5
allele num: 118756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.1A>T
  hgvsp: ENSP00000436823.1:p.Met1?
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.1A>T
  hgvsp: ENSP00000305494.6:p.Met1?
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.1A>T
  hgvsp: ENSP00000453406.1:p.Met1?
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9217
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7680
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

15-45694635-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694635
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694635
    reference: chr 15
allele count: 2
allele frequency: 1.68947457340767e-5
allele num: 118380
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.8C>T
  hgvsp: ENSP00000305494.6:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.8C>T
  hgvsp: ENSP00000453406.1:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.8C>T
  hgvsp: ENSP00000436823.1:p.Pro3Leu
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7578
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Pro3Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

15-45694636-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694636
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694636
    reference: chr 15
allele count: 2
allele frequency: 1.690102758247702e-5
allele num: 118336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.9G>A
  hgvsp: ENST00000531970.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.9G>A
  hgvsp: ENST00000559860.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.9G>A
  hgvsp: ENST00000305560.6:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9136
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro3Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/15-45694639-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694639
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694639
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 118096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.12C>A
  hgvsp: ENSP00000453406.1:p.Asp4Glu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.12C>A
  hgvsp: ENSP00000305494.6:p.Asp4Glu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.12C>A
  hgvsp: ENSP00000436823.1:p.Asp4Glu
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15995
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 45250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7514
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp4Glu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/15-45694646-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694646
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694646
    reference: chr 15
allele count: 1
allele frequency: 8.513246611727849e-6
allele num: 117464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.19C>A
  hgvsp: ENSP00000436823.1:p.Pro7Thr
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.19C>A
  hgvsp: ENSP00000305494.6:p.Pro7Thr
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.19C>A
  hgvsp: ENSP00000453406.1:p.Pro7Thr
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
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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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 121
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2812
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genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44935
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro7Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/15-45694651-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694651
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694651
    reference: chr 15
allele count: 1
allele frequency: 8.593575442998814e-6
allele num: 116366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.24C>A
  hgvsp: ENSP00000436823.1:p.Phe8Leu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.24C>A
  hgvsp: ENSP00000305494.6:p.Phe8Leu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.24C>A
  hgvsp: ENSP00000453406.1:p.Phe8Leu
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29920
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 331
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe8Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

15-45694653-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694653
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694653
    reference: chr 15
allele count: 75
allele frequency: 6.447952130403384e-4
allele num: 116316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.26C>T
  hgvsp: ENSP00000453406.1:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.26C>T
  hgvsp: ENSP00000305494.6:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.26C>T
  hgvsp: ENSP00000436823.1:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 15206
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8741
  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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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: 375
  bin: 9.75e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro9Leu
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: C
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

15-45694657-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694657
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694657
    reference: chr 15
allele count: 1
allele frequency: 8.656060107681388e-6
allele num: 115526
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.30A>G
  hgvsp: ENST00000305560.6:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.30A>G
  hgvsp: ENST00000531970.1:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.30A>G
  hgvsp: ENST00000559860.1:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29489
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7007
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu10Glu
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

15-45694659-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694659
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694659
    reference: chr 15
allele count: 2
allele frequency: 1.741068319520858e-5
allele num: 114872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.32G>C
  hgvsp: ENSP00000436823.1:p.Gly11Ala
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.32G>C
  hgvsp: ENSP00000453406.1:p.Gly11Ala
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.32G>C
  hgvsp: ENSP00000305494.6:p.Gly11Ala
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6924
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly11Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum

15-45694663-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694663
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694663
    reference: chr 15
allele count: 1
allele frequency: 8.867763904653802e-6
allele num: 112768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.36G>C
  hgvsp: ENST00000559860.1:c.36G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.36G>C
  hgvsp: ENST00000305560.6:c.36G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.36G>C
  hgvsp: ENST00000531970.1:c.36G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27740
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7086
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40328
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro12Pro
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

15-45694666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694666
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694666
    reference: chr 15
allele count: 1
allele frequency: 8.946624438599317e-6
allele num: 111774
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.39C>T
  hgvsp: ENST00000305560.6:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.39C>T
  hgvsp: ENST00000531970.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.39C>T
  hgvsp: ENST00000559860.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6060
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 814
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 464
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 276
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genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu13Leu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

15-45694672-GCTGCTACC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694672
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694664
    reference: chr 15
allele count: 1
allele frequency: 9.09305835924855e-6
allele num: 109974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.48_55delGCTACCCT
  hgvsp: ENSP00000436823.1:p.Leu17ArgfsTer3
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.48_55delGCTACCCT
  hgvsp: ENSP00000453406.1:p.Leu17ArgfsTer3
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.48_55delGCTACCCT
  hgvsp: ENSP00000305494.6:p.Leu17ArgfsTer3
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 13293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38768
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9654
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu17ArgfsTer3
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: GCTGCTACC
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

15-45694679-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694679
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694679
    reference: chr 15
allele count: 1
allele frequency: 9.602642647256525e-6
allele num: 104138
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.52C>T
  hgvsp: ENSP00000305494.6:p.Pro18Ser
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.52C>T
  hgvsp: ENSP00000453406.1:p.Pro18Ser
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.52C>T
  hgvsp: ENSP00000436823.1:p.Pro18Ser
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 713
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 4943
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14972
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31820
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro18Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

15-45694680-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694680
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694680
    reference: chr 15
allele count: 1
allele frequency: 9.606886216039658e-6
allele num: 104092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.53C>T
  hgvsp: ENSP00000436823.1:p.Pro18Leu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.53C>T
  hgvsp: ENSP00000453406.1:p.Pro18Leu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.53C>T
  hgvsp: ENSP00000305494.6:p.Pro18Leu
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21930
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 32625
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro18Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

15-45694687-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694687
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694687
    reference: chr 15
allele count: 8
allele frequency: 8.327954862484645e-5
allele num: 96062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.60C>T
  hgvsp: ENST00000531970.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.60C>T
  hgvsp: ENST00000305560.6:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.60C>T
  hgvsp: ENST00000559860.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9789
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp20Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

15-45694699-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694699
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694699
    reference: chr 15
allele count: 1
allele frequency: 1.150933406993071e-5
allele num: 86886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.72G>A
  hgvsp: ENST00000559860.1:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.72G>A
  hgvsp: ENST00000305560.6:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.72G>A
  hgvsp: ENST00000531970.1:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26486
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg24Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

15-45694709-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694709
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694709
    reference: chr 15
allele count: 1
allele frequency: 1.269003324788711e-5
allele num: 78802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.82C>T
  hgvsp: ENSP00000453406.1:p.Arg28Cys
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.82C>T
  hgvsp: ENSP00000436823.1:p.Arg28Cys
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.82C>T
  hgvsp: ENSP00000305494.6:p.Arg28Cys
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17968
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29661
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13444
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg28Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

15-45694711-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694711
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694711
    reference: chr 15
allele count: 1
allele frequency: 1.295773187861197e-5
allele num: 77174
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.84C>T
  hgvsp: ENST00000305560.6:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.84C>T
  hgvsp: ENST00000531970.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.84C>T
  hgvsp: ENST00000559860.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 30318
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg28Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

15-45694718-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694718
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694718
    reference: chr 15
allele count: 1
allele frequency: 1.424095699230988e-5
allele num: 70220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.91C>G
  hgvsp: ENSP00000436823.1:p.Leu31Val
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.91C>G
  hgvsp: ENSP00000453406.1:p.Leu31Val
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.91C>G
  hgvsp: ENSP00000305494.6:p.Leu31Val
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 417
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu31Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

15-45694724-CCGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694724
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694721
    reference: chr 15
allele count: 1
allele frequency: 1.526111772426212e-5
allele num: 65526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.99_101delGGC
  hgvsp: ENSP00000436823.1:p.Ala35del
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.99_101delGGC
  hgvsp: ENSP00000305494.6:p.Ala35del
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.99_101delGGC
  hgvsp: ENSP00000453406.1:p.Ala35del
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5753
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  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: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8500
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala35del
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: CCGG
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

15-45694733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694733
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694733
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 57324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.106C>T
  hgvsp: ENSP00000453406.1:p.Leu36Phe
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.106C>T
  hgvsp: ENSP00000305494.6:p.Leu36Phe
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.106C>T
  hgvsp: ENSP00000436823.1:p.Leu36Phe
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23637
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3025
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31766
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7624
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu36Phe
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

15-45694736-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694736
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694736
    reference: chr 15
allele count: 1
allele frequency: 1.79430129907414e-5
allele num: 55732
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.109C>T
  hgvsp: ENSP00000305494.6:p.His37Tyr
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.109C>T
  hgvsp: ENSP00000436823.1:p.His37Tyr
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.109C>T
  hgvsp: ENSP00000453406.1:p.His37Tyr
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16891
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31594
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7976
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His37Tyr
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: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

15-45694739-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694739
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694739
    reference: chr 15
allele count: 1
allele frequency: 1.893293952819115e-5
allele num: 52818
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.112G>A
  hgvsp: ENSP00000305494.6:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.112G>A
  hgvsp: ENSP00000436823.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.112G>A
  hgvsp: ENSP00000453406.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6040
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 169
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genotype quality: GenotypeQuality
  all individuals: 262
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala38Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

15-45694747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694747
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694747
    reference: chr 15
allele count: 31
allele frequency: 6.368118323746919e-4
allele num: 48680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.120C>T
  hgvsp: ENST00000531970.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.120C>T
  hgvsp: ENST00000305560.6:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.120C>T
  hgvsp: ENST00000559860.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9666
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15311
  bin: 1.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2014
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24480
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.25e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  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: 5563
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Gly40Gly
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

15-45694761-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694761
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694761
    reference: chr 15
allele count: 1
allele frequency: 2.465848005128964e-5
allele num: 40554
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.134C>G
  hgvsp: ENSP00000453406.1:p.Ser45Trp
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.134C>G
  hgvsp: ENSP00000305494.6:p.Ser45Trp
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.134C>G
  hgvsp: ENSP00000436823.1:p.Ser45Trp
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2774
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27064
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12952
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3068
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4789
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser45Trp
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

15-45694762-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694762
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694762
    reference: chr 15
allele count: 1
allele frequency: 2.478314745972738e-5
allele num: 40350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.135G>T
  hgvsp: ENST00000531970.1:c.135G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.135G>T
  hgvsp: ENST00000305560.6:c.135G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.135G>T
  hgvsp: ENST00000559860.1:c.135G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4799
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser45Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

15-45694768-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694768
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694768
    reference: chr 15
allele count: 1
allele frequency: 2.626188350228478e-5
allele num: 38078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.141G>A
  hgvsp: ENST00000531970.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.141G>A
  hgvsp: ENST00000559860.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.141G>A
  hgvsp: ENST00000305560.6:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13544
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24354
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4526
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14075
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val47Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

15-45694768-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694768
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694768
    reference: chr 15
allele count: 2362
allele frequency: 6.203056883239666e-2
allele num: 38078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.141G>T
  hgvsp: ENST00000559860.1:c.141G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.141G>T
  hgvsp: ENST00000531970.1:c.141G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.141G>T
  hgvsp: ENST00000305560.6:c.141G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11620
  bin: 1.25e1
  variant carriers: 1064
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 246
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 1.75e1
  variant carriers: 363
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 2.25e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 13544
  bin: 2.5e0
  variant carriers: 190
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 25256
  bin: 7.5e0
  variant carriers: 1267
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 2.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 6.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 2.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 2.75e1
  variant carriers: 121
genotype quality: GenotypeQuality
  all individuals: 24354
  bin: 2.25e1
  variant carriers: 210
genotype quality: GenotypeQuality
  all individuals: 14075
  bin: 7.5e0
  variant carriers: 85
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 1.25e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 89
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.25e1
  variant carriers: 88
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 3.75e1
  variant carriers: 99
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.75e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 3.25e1
  variant carriers: 142
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 9.75e1
  variant carriers: 1677
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 96
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 1.75e1
  variant carriers: 164
hgvs: p.Val47Val
num of homozygotes: 407
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

15-45694776-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694776
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694776
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 31258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.149C>G
  hgvsp: ENSP00000436823.1:p.Ser50Trp
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.149C>G
  hgvsp: ENSP00000305494.6:p.Ser50Trp
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.149C>G
  hgvsp: ENSP00000453406.1:p.Ser50Trp
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15761
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25575
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19561
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16684
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5512
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4357
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Ser50Trp
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

15-45694782-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694782
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694782
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 29242
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.155C>T
  hgvsp: ENSP00000305494.6:p.Pro52Leu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.155C>T
  hgvsp: ENSP00000453406.1:p.Pro52Leu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.155C>T
  hgvsp: ENSP00000436823.1:p.Pro52Leu
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25850
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4364
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4145
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro52Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-45694783-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694783
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694783
    reference: chr 15
allele count: 1
allele frequency: 3.424892115898349e-5
allele num: 29198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.156C>T
  hgvsp: ENST00000531970.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.156C>T
  hgvsp: ENST00000559860.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.156C>T
  hgvsp: ENST00000305560.6:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16098
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
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genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 871
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro52Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

15-45694784-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694784
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694784
    reference: chr 15
allele count: 2
allele frequency: 6.90894016857814e-5
allele num: 28948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.157G>A
  hgvsp: ENSP00000436823.1:p.Asp53Asn
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.157G>A
  hgvsp: ENSP00000453406.1:p.Asp53Asn
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.157G>A
  hgvsp: ENSP00000305494.6:p.Asp53Asn
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  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
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  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4067
  bin: 1.75e1
  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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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 171
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genotype quality: GenotypeQuality
  all individuals: 873
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4172
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp53Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

15-45694787-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694787
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694787
    reference: chr 15
allele count: 2
allele frequency: 7.137249304118193e-5
allele num: 28022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.160G>C
  hgvsp: ENSP00000436823.1:p.Gly54Arg
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.160G>C
  hgvsp: ENSP00000305494.6:p.Gly54Arg
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.160G>C
  hgvsp: ENSP00000453406.1:p.Gly54Arg
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7528
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16407
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4188
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4594
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly54Arg
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

15-45694791-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694791
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694791
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 27894
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.164G>C
  hgvsp: ENSP00000305494.6:p.Gly55Ala
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.164G>C
  hgvsp: ENSP00000436823.1:p.Gly55Ala
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.164G>C
  hgvsp: ENSP00000453406.1:p.Gly55Ala
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 26379
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3615
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16437
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4222
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21823
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3778
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly55Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

15-45694792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694792
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694792
    reference: chr 15
allele count: 1
allele frequency: 3.595828838547285e-5
allele num: 27810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.165C>T
  hgvsp: ENST00000559860.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.165C>T
  hgvsp: ENST00000305560.6:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.165C>T
  hgvsp: ENST00000531970.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3740
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16570
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 43
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 99
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genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4199
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly55Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

15-45694793-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694793
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694793
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 27902
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.166T>C
  hgvsp: ENSP00000436823.1:p.Ser56Pro
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.166T>C
  hgvsp: ENSP00000453406.1:p.Ser56Pro
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.166T>C
  hgvsp: ENSP00000305494.6:p.Ser56Pro
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26681
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22559
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genotype quality: GenotypeQuality
  all individuals: 3481
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16245
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser56Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

15-45694814-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694814
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694814
    reference: chr 15
allele count: 1
allele frequency: 3.436189952580579e-5
allele num: 29102
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.187C>T
  hgvsp: ENSP00000305494.6:p.Pro63Ser
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.187C>T
  hgvsp: ENSP00000453406.1:p.Pro63Ser
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.187C>T
  hgvsp: ENSP00000436823.1:p.Pro63Ser
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14090
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27631
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4770
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro63Ser
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

15-45694815-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694815
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694815
    reference: chr 15
allele count: 29
allele frequency: 9.907078436731348e-4
allele num: 29272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.188C>T
  hgvsp: ENSP00000436823.1:p.Pro63Leu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.188C>T
  hgvsp: ENSP00000305494.6:p.Pro63Leu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.188C>T
  hgvsp: ENSP00000453406.1:p.Pro63Leu
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14088
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29067
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13965
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2877
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27708
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 9.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 6.75e1
  variant carriers: 3
hgvs: p.Pro63Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

15-45694821-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694821
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694821
    reference: chr 15
allele count: 129
allele frequency: 4.32740691043274e-3
allele num: 29810
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.194G>A
  hgvsp: ENSP00000305494.6:p.Arg65Gln
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.194G>A
  hgvsp: ENSP00000453406.1:p.Arg65Gln
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.194G>A
  hgvsp: ENSP00000436823.1:p.Arg65Gln
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29230
  bin: 7.5e0
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 1.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13559
  bin: 2.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13325
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 1.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 9.75e1
  variant carriers: 122
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 27851
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 5012
  bin: 6.25e1
  variant carriers: 4
hgvs: p.Arg65Gln
num of homozygotes: 3
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

15-45694825-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694825
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694825
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 29870
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.198C>G
  hgvsp: ENSP00000453406.1:p.Asp66Glu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.198C>G
  hgvsp: ENSP00000436823.1:p.Asp66Glu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.198C>G
  hgvsp: ENSP00000305494.6:p.Asp66Glu
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29306
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27664
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3166
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp66Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

15-45694831-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694831
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694831
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 30514
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.204G>C
  hgvsp: ENST00000559860.1:c.204G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.204G>C
  hgvsp: ENST00000531970.1:c.204G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.204G>C
  hgvsp: ENST00000305560.6:c.204G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 29466
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12719
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28624
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Ala68Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

15-45694836-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694836
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694836
    reference: chr 15
allele count: 1
allele frequency: 3.207595586348473e-5
allele num: 31176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.209G>C
  hgvsp: ENSP00000453406.1:p.Gly70Ala
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.209G>C
  hgvsp: ENSP00000436823.1:p.Gly70Ala
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.209G>C
  hgvsp: ENSP00000305494.6:p.Gly70Ala
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12741
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28995
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12305
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly70Ala
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

15-45694840-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694840
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694840
    reference: chr 15
allele count: 3
allele frequency: 9.392023041763196e-5
allele num: 31942
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.213T>G
  hgvsp: ENSP00000305494.6:p.Phe71Leu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.213T>G
  hgvsp: ENSP00000453406.1:p.Phe71Leu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.213T>G
  hgvsp: ENSP00000436823.1:p.Phe71Leu
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12047
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe71Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

15-45694841-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694841
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694841
    reference: chr 15
allele count: 1
allele frequency: 3.122853038536007e-5
allele num: 32022
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.214G>A
  hgvsp: ENSP00000305494.6:p.Val72Met
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.214G>A
  hgvsp: ENSP00000453406.1:p.Val72Met
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.214G>A
  hgvsp: ENSP00000436823.1:p.Val72Met
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 89
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genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 12017
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 30146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val72Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

15-45694842-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694842
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694842
    reference: chr 15
allele count: 1
allele frequency: 3.107327077248151e-5
allele num: 32182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.215T>G
  hgvsp: ENSP00000453406.1:p.Val72Gly
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.215T>G
  hgvsp: ENSP00000305494.6:p.Val72Gly
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.215T>G
  hgvsp: ENSP00000436823.1:p.Val72Gly
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val72Gly
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/15-45694863-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694863
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694863
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 33548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.236C>A
  hgvsp: ENSP00000436823.1:p.Ala79Glu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.236C>A
  hgvsp: ENSP00000305494.6:p.Ala79Glu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.236C>A
  hgvsp: ENSP00000453406.1:p.Ala79Glu
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2947
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Ala79Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

15-45694867-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694867
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694867
    reference: chr 15
allele count: 1
allele frequency: 2.949330501976051e-5
allele num: 33906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.240C>T
  hgvsp: ENST00000531970.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.240C>T
  hgvsp: ENST00000305560.6:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.240C>T
  hgvsp: ENST00000559860.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12249
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6779
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  variant carriers: 0
hgvs: p.Ser80Ser
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-45694868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694868
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694868
    reference: chr 15
allele count: 7
allele frequency: 2.064531351383236e-4
allele num: 33906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.241C>T
  hgvsp: ENSP00000453406.1:p.Pro81Ser
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.241C>T
  hgvsp: ENSP00000305494.6:p.Pro81Ser
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.241C>T
  hgvsp: ENSP00000436823.1:p.Pro81Ser
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28237
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro81Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

15-45694871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694871
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694871
    reference: chr 15
allele count: 4
allele frequency: 1.182522320108792e-4
allele num: 33826
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.244G>A
  hgvsp: ENSP00000305494.6:p.Gly82Arg
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.244G>A
  hgvsp: ENSP00000436823.1:p.Gly82Arg
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.244G>A
  hgvsp: ENSP00000453406.1:p.Gly82Arg
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12521
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28040
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7823
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29140
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly82Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

15-45694875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694875
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694875
    reference: chr 15
allele count: 13
allele frequency: 3.851623607489927e-4
allele num: 33752
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.248C>T
  hgvsp: ENSP00000305494.6:p.Ala83Val
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.248C>T
  hgvsp: ENSP00000436823.1:p.Ala83Val
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.248C>T
  hgvsp: ENSP00000453406.1:p.Ala83Val
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12776
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27941
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28876
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 382
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6045
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12362
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala83Val
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

15-45694878-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694878
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694878
    reference: chr 15
allele count: 3
allele frequency: 9.024184815305017e-5
allele num: 33244
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.251C>T
  hgvsp: ENSP00000305494.6:p.Ala84Val
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.251C>T
  hgvsp: ENSP00000436823.1:p.Ala84Val
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.251C>T
  hgvsp: ENSP00000453406.1:p.Ala84Val
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27586
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27763
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 372
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala84Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

15-45694882-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694882
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694882
    reference: chr 15
allele count: 1
allele frequency: 3.017683626048645e-5
allele num: 33138
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.255C>T
  hgvsp: ENST00000305560.6:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.255C>T
  hgvsp: ENST00000559860.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.255C>T
  hgvsp: ENST00000531970.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8522
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
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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: 372
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 522
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5343
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val85Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/15-45694890-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694890
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694890
    reference: chr 15
allele count: 1
allele frequency: 3.05548765582987e-5
allele num: 32728
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.263C>A
  hgvsp: ENSP00000305494.6:p.Ser88Ter
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.263C>A
  hgvsp: ENSP00000436823.1:p.Ser88Ter
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.263C>A
  hgvsp: ENSP00000453406.1:p.Ser88Ter
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14087
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27819
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13933
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser88Ter
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

15-45694891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694891
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694891
    reference: chr 15
allele count: 28
allele frequency: 8.661758336942399e-4
allele num: 32326
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.264G>A
  hgvsp: ENST00000305560.6:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.264G>A
  hgvsp: ENST00000531970.1:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.264G>A
  hgvsp: ENST00000559860.1:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27150
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14382
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3152
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4641
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14249
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Ser88Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/15-45694896-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694896
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694896
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 32230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.269C>A
  hgvsp: ENSP00000453406.1:p.Ser90Tyr
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.269C>A
  hgvsp: ENSP00000436823.1:p.Ser90Tyr
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.269C>A
  hgvsp: ENSP00000305494.6:p.Ser90Tyr
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14648
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27154
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14615
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4582
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser90Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

15-45694898-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694898
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694898
    reference: chr 15
allele count: 8
allele frequency: 2.510197678067148e-4
allele num: 31870
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.271C>T
  hgvsp: ENSP00000305494.6:p.Arg91Trp
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.271C>T
  hgvsp: ENSP00000436823.1:p.Arg91Trp
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.271C>T
  hgvsp: ENSP00000453406.1:p.Arg91Trp
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14828
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27040
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8865
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4553
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 90
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genotype quality: GenotypeQuality
  all individuals: 523
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genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 83
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14831
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 93
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg91Trp
num of homozygotes: 1
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

15-45694899-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694899
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694899
    reference: chr 15
allele count: 1
allele frequency: 3.139520281301017e-5
allele num: 31852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.272G>A
  hgvsp: ENSP00000436823.1:p.Arg91Gln
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.272G>A
  hgvsp: ENSP00000453406.1:p.Arg91Gln
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.272G>A
  hgvsp: ENSP00000305494.6:p.Arg91Gln
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8840
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14912
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26621
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2731
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14974
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg91Gln
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

15-45694906-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694906
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694906
    reference: chr 15
allele count: 1
allele frequency: 3.225598348493646e-5
allele num: 31002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.279T>A
  hgvsp: ENSP00000436823.1:p.Ser93Arg
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.279T>A
  hgvsp: ENSP00000305494.6:p.Ser93Arg
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.279T>A
  hgvsp: ENSP00000453406.1:p.Ser93Arg
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26863
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15641
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3522
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser93Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

15-45694927-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694927
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694927
    reference: chr 15
allele count: 3
allele frequency: 1.04602510460251e-4
allele num: 28680
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.300C>T
  hgvsp: ENST00000305560.6:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.300C>T
  hgvsp: ENST00000531970.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.300C>T
  hgvsp: ENST00000559860.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27994
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15388
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7662
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3674
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15436
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23412
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4198
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Leu100Leu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

15-45694929-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694929
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694929
    reference: chr 15
allele count: 1
allele frequency: 3.477293274914807e-5
allele num: 28758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.302T>A
  hgvsp: ENSP00000453406.1:p.Leu101Gln
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.302T>A
  hgvsp: ENSP00000305494.6:p.Leu101Gln
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.302T>A
  hgvsp: ENSP00000436823.1:p.Leu101Gln
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28215
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4002
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4227
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23678
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu101Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

15-45694931-GTGCCCTGTCCGCCCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694931
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694916
    reference: chr 15
allele count: 1
allele frequency: 3.454708768050853e-5
allele num: 28946
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsp: ENSP00000305494.6:p.Pro103_Leu107del
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsp: ENSP00000436823.1:p.Pro103_Leu107del
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsp: ENSP00000453406.1:p.Pro103_Leu107del
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14965
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7673
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15044
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24460
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro103_Leu107del
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: GTGCCCTGTCCGCCCC
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

15-45694935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694935
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694935
    reference: chr 15
allele count: 1
allele frequency: 3.444237790177034e-5
allele num: 29034
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.308C>T
  hgvsp: ENSP00000305494.6:p.Pro103Leu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.308C>T
  hgvsp: ENSP00000436823.1:p.Pro103Leu
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.308C>T
  hgvsp: ENSP00000453406.1:p.Pro103Leu
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7848
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23082
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5069
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro103Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

15-45694942-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694942
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694942
    reference: chr 15
allele count: 1
allele frequency: 3.282563025210084e-5
allele num: 30464
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.315G>T
  hgvsp: ENST00000559860.1:c.315G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.315G>T
  hgvsp: ENST00000305560.6:c.315G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.315G>T
  hgvsp: ENST00000531970.1:c.315G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12849
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27017
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 41
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genotype quality: GenotypeQuality
  all individuals: 1271
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genotype quality: GenotypeQuality
  all individuals: 132
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genotype quality: GenotypeQuality
  all individuals: 16
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro105Pro
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

15-45694945-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694945
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694945
    reference: chr 15
allele count: 1
allele frequency: 3.177427554651754e-5
allele num: 31472
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.318C>G
  hgvsp: ENST00000559860.1:c.318C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.318C>G
  hgvsp: ENST00000305560.6:c.318C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.318C>G
  hgvsp: ENST00000531970.1:c.318C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12167
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 370
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 168
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genotype quality: GenotypeQuality
  all individuals: 88
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro106Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/15-45694960-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694960
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694960
    reference: chr 15
allele count: 22
allele frequency: 5.987046209111195e-4
allele num: 36746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.333C>A
  hgvsp: ENST00000531970.1:c.333C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.333C>A
  hgvsp: ENST00000305560.6:c.333C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.333C>A
  hgvsp: ENST00000559860.1:c.333C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8927
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  variant carriers: 17
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 7
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 3
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6435
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Ala111Ala
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

15-45694963-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694963
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694963
    reference: chr 15
allele count: 1
allele frequency: 2.609467146808622e-5
allele num: 38322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.336G>A
  hgvsp: ENST00000531970.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.336G>A
  hgvsp: ENST00000559860.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.336G>A
  hgvsp: ENST00000305560.6:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30721
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8923
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8266
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Val112Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

15-45694975-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45694975
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 45694975
    reference: chr 15
allele count: 4
allele frequency: 9.069472156720479e-5
allele num: 44104
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000305494
  ensembl transcript: ENST00000305560
  gene symbol: SPATA5L1
  hgvsc: ENST00000305560.6:c.348G>A
  hgvsp: ENST00000305560.6:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000453406
  ensembl transcript: ENST00000559860
  gene symbol: SPATA5L1
  hgvsc: ENST00000559860.1:c.348G>A
  hgvsp: ENST00000559860.1:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000171763
  ensembl protein: ENSP00000436823
  ensembl transcript: ENST00000531970
  gene symbol: SPATA5L1
  hgvsc: ENST00000531970.1:c.348G>A
  hgvsp: ENST00000531970.1:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28762
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8963
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30095
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6510
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu116Leu
num of homozygotes: 0
population: East Asian
reference allele: G

GenotypeQuality
all individuals: 2719
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.827044025157233e-5
allele num: 10176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.162263689948997e-5
allele num: 65486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.52e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.765534e6

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

FS
type: SiteQuality
SIO_000300: 5.28e-1

GenotypeQuality
all individuals: 290
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

FS
type: SiteQuality
SIO_000300: 5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.52e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 1.765534e6

GenotypeQuality
all individuals: 8582
bin: 9.75e1
variant carriers: 2

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.054274457102715e-5
allele num: 65482
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.834e0

QD
type: SiteQuality
SIO_000300: 9.75e0

DP
type: SiteQuality
SIO_000300: 1.767144e6

VQSLOD
type: SiteQuality
SIO_000300: -1.041e0

MQ
type: SiteQuality
SIO_000300: 5.861e1

FS
type: SiteQuality
SIO_000300: 1.764e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

GenotypeQuality
all individuals: 901
bin: 8.25e1
variant carriers: 675

European (Finnish)
type: Population
allele count: 1966
allele frequency: 3.033014501697007e-1
allele num: 6482
num of homozygotes: 296

East Asian
type: Population
allele count: 7012
allele frequency: 8.205008190966534e-1
allele num: 8546
num of homozygotes: 2883

European (Non-Finnish)
type: Population
allele count: 18051
allele frequency: 2.755709574987787e-1
allele num: 65504
num of homozygotes: 2378

Latino
type: Population
allele count: 7486
allele frequency: 6.6049055937886e-1
allele num: 11334
num of homozygotes: 2594

African
type: Population
allele count: 3067
allele frequency: 3.004506269592476e-1
allele num: 10208
num of homozygotes: 490

South Asian
type: Population
allele count: 5668
allele frequency: 3.451887941534714e-1
allele num: 16420
num of homozygotes: 1004

Other
type: Population
allele count: 325
allele frequency: 3.643497757847534e-1
allele num: 892
num of homozygotes: 59

QD
type: SiteQuality
SIO_000300: 1.621e1

VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

DP
type: SiteQuality
SIO_000300: 2.164832e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 3.364e0

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.225e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.122199093914534e-5
allele num: 16334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

DP
type: SiteQuality
SIO_000300: 1.589001e6

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

QD
type: SiteQuality
SIO_000300: 8.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.31e-1

GenotypeQuality
all individuals: 648
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528070657987225e-5
allele num: 65442
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

DP
type: SiteQuality
SIO_000300: 1.588884e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.514e1

FS
type: SiteQuality
SIO_000300: 9.46e-1

MQ
type: SiteQuality
SIO_000300: 5.888e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

GenotypeQuality
all individuals: 1675
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.647370278856336e-4
allele num: 11332
num of homozygotes: 0

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

African
type: Population
allele count: 36
allele frequency: 3.556609365737996e-3
allele num: 10122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65366
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

FS
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.284e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.09e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65298
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.226993865030675e-4
allele num: 16300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.728e1

DP
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SIO_000300: 1.585134e6

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.4278e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.025e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.32e-1

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531909678605349e-5
allele num: 65278
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11296
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10096
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
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Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
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DP
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SIO_000300: 1.583739e6

MQ
type: SiteQuality
SIO_000300: 5.935e1

BaseQRankSum
type: SiteQuality
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QD
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VQSLOD
type: SiteQuality
SIO_000300: -2.98e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8466
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16286
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65290
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.539196602371262e-4
allele num: 11302
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10100
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MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-2

FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

DP
type: SiteQuality
SIO_000300: 1.583051e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10052
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.885729518393461e-5
allele num: 11254
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8438
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534919416730622e-5
allele num: 65150
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.578606e6

FS
type: SiteQuality
SIO_000300: 4.843e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.076e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

QD
type: SiteQuality
SIO_000300: 1.433e1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.87e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535202186127913e-5
allele num: 65138
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.187366421277606e-4
allele num: 8422
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

QD
type: SiteQuality
SIO_000300: 1.554e1

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

FS
type: SiteQuality
SIO_000300: 3.109e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.33e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 1.577442e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65042
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 4.228e0

VQSLOD
type: SiteQuality
SIO_000300: -2.861e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.83e-1

DP
type: SiteQuality
SIO_000300: 1.572882e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543876983881924e-5
allele num: 64772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9930
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16110
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e-1

DP
type: SiteQuality
SIO_000300: 1.561904e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.49e0

FS
type: SiteQuality
SIO_000300: 6.446e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.85e-1

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

QD
type: SiteQuality
SIO_000300: 6.74e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10956
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64298
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9788
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
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East Asian
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allele count: 1
allele frequency: 1.215657670799903e-4
allele num: 8226
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.968e0

DP
type: SiteQuality
SIO_000300: 1.544133e6

MQRankSum
type: SiteQuality
SIO_000300: -7.32e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Latino
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allele count: 1
allele frequency: 9.125752874612155e-5
allele num: 10958
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 18
allele frequency: 2.89110183103116e-3
allele num: 6226
num of homozygotes: 0

European (Non-Finnish)
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allele count: 55
allele frequency: 8.558446408564671e-4
allele num: 64264
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.022285831118381e-4
allele num: 9782
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8224
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QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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FS
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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.565239168544954e-5
allele num: 63888
num of homozygotes: 0

African
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South Asian
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63590
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6100
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African
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allele frequency: 0.0e0
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Latino
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East Asian
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South Asian
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allele frequency: 1.261670451678022e-4
allele num: 15852
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Other
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Other
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European (Non-Finnish)
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allele frequency: 1.598158920923096e-5
allele num: 62572
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East Asian
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Latino
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allele frequency: 0.0e0
allele num: 10470
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5928
num of homozygotes: 0

QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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East Asian
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Other
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South Asian
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allele frequency: 6.411900487304436e-5
allele num: 15596
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Latino
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allele frequency: 0.0e0
allele num: 10330
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62084
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.826e0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

ClippingRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9206
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61172
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 15408
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East Asian
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allele frequency: 1.329787234042553e-4
allele num: 7520
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.458e1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.02e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.583e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8774
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14962
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5372
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6888
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9278
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.721288901129166e-5
allele num: 58096
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 768
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MQRankSum
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BaseQRankSum
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QD
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MQ
type: SiteQuality
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DP
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14958
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8774
num of homozygotes: 0

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: 1
allele frequency: 1.721940971863485e-5
allele num: 58074
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6880
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5374
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.78e-1

MQRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.907e1

FS
type: SiteQuality
SIO_000300: 5.055e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.81e-1

QD
type: SiteQuality
SIO_000300: 1.758e1

DP
type: SiteQuality
SIO_000300: 1.305971e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.1196118678858e-4
allele num: 53590
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8056
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
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Other
type: Population
allele count: 2
allele frequency: 2.762430939226519e-3
allele num: 724
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.12e1

DP
type: SiteQuality
SIO_000300: 1.145159e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.688e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7222
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.071165237562653e-5
allele num: 48282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

FS
type: SiteQuality
SIO_000300: 3.096e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

DP
type: SiteQuality
SIO_000300: 9.97773e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.537515375153752e-4
allele num: 6504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13328
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4730
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VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

DP
type: SiteQuality
SIO_000300: 8.92449e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

FS
type: SiteQuality
SIO_000300: 5.35e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13244
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4604
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.360494759701633e-5
allele num: 42364
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.444e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

DP
type: SiteQuality
SIO_000300: 8.70303e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.623019620186759e-5
allele num: 38124
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5892
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4002
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DP
type: SiteQuality
SIO_000300: 8.00882e5

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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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variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4920
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5472
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.824380048579337e-5
allele num: 35406
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 526
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3610
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3174
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.058e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.618e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 448
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 4752
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30684
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2684
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Latino
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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DP
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FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2598
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 4628
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Latino
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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
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European (Non-Finnish)
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allele count: 1
allele frequency: 3.358860674459224e-5
allele num: 29772
num of homozygotes: 0

Other
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allele count: 0
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allele num: 444
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South Asian
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allele count: 0
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.5486160397445e-5
allele num: 28180
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South Asian
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African
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East Asian
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Latino
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allele frequency: 0.0e0
allele num: 3478
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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QD
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BaseQRankSum
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 2.475247524752475e-4
allele num: 4040
num of homozygotes: 0

South Asian
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allele frequency: 9.897426669066042e-4
allele num: 11114
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3052
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 7.373486494877367e-4
allele num: 25768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.306e1

DP
type: SiteQuality
SIO_000300: 6.33305e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.25e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

GenotypeQuality
all individuals: 81
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.774181227919412e-5
allele num: 20946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1672
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.777e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.86e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.621e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 2.315e0

DP
type: SiteQuality
SIO_000300: 5.82445e5

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 155
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1658
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.600614439324117e-5
allele num: 10416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20798
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

FS
type: SiteQuality
SIO_000300: 8.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.81e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.47e-1

QD
type: SiteQuality
SIO_000300: 1.491e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

DP
type: SiteQuality
SIO_000300: 5.79837e5

GenotypeQuality
all individuals: 2059
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1212
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.75800156128025e-5
allele num: 10248
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.57e0

FS
type: SiteQuality
SIO_000300: 5.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.294e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

DP
type: SiteQuality
SIO_000300: 5.8778e5

QD
type: SiteQuality
SIO_000300: 1.594e1

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.652e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeQuality
all individuals: 4526
bin: 6.25e1
variant carriers: 98

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 74

African
type: Population
allele count: 1744
allele frequency: 4.948921679909194e-1
allele num: 3524
num of homozygotes: 392

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1212
num of homozygotes: 0

Latino
type: Population
allele count: 45
allele frequency: 2.142857142857143e-2
allele num: 2100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 7.2992700729927e-4
allele num: 19180
num of homozygotes: 1

East Asian
type: Population
allele count: 9
allele frequency: 5.984042553191489e-3
allele num: 1504
num of homozygotes: 0

South Asian
type: Population
allele count: 544
allele frequency: 5.308352849336456e-2
allele num: 10248
num of homozygotes: 14

Other
type: Population
allele count: 6
allele frequency: 1.935483870967742e-2
allele num: 310
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.294e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.652e0

DP
type: SiteQuality
SIO_000300: 5.8778e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.594e1

VQSLOD
type: SiteQuality
SIO_000300: 8.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

GenotypeQuality
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15744
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.775e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.68e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.225e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

DP
type: SiteQuality
SIO_000300: 5.34367e5

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

GenotypeQuality
all individuals: 113
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1098
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.23096e5

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.73e-2

QD
type: SiteQuality
SIO_000300: 3.042e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.179e0

VQSLOD
type: SiteQuality
SIO_000300: -2.849e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
all individuals: 1354
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 7.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.869075422448138e-5
allele num: 14558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1080
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 1.429e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

DP
type: SiteQuality
SIO_000300: 5.2351e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 6.99e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.78e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.132e-1

GenotypeQuality
all individuals: 53
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.386770212175842e-4
allele num: 14422
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.78e-2

FS
type: SiteQuality
SIO_000300: 3.055e0

VQSLOD
type: SiteQuality
SIO_000300: -1.973e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.2231e5

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

QD
type: SiteQuality
SIO_000300: 4.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.439055979277594e-4
allele num: 13898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.127e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

DP
type: SiteQuality
SIO_000300: 5.1717e5

GenotypeQuality
all individuals: 53
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13826
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.73e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.335e-1

DP
type: SiteQuality
SIO_000300: 5.18604e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.611e1

GenotypeQuality
all individuals: 175
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.240081088908195e-5
allele num: 13812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.19231e5

VQSLOD
type: SiteQuality
SIO_000300: -1.036e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.896e0

QD
type: SiteQuality
SIO_000300: 5.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.75e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

GenotypeQuality
all individuals: 53
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 4.48e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.20826e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.63e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 52
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.863417982155113e-5
allele num: 14570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9256
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.12e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.48e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.14e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.379e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: -9.613e-1

DP
type: SiteQuality
SIO_000300: 5.48229e5

GenotypeQuality
all individuals: 4795
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14652
num of homozygotes: 0

African
type: Population
allele count: 28
allele frequency: 1.801801801801802e-2
allele num: 1554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.079680414597279e-4
allele num: 9262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1654
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.98e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

FS
type: SiteQuality
SIO_000300: 3.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 5.49311e5

GenotypeQuality
all individuals: 177
bin: 7.25e1
variant carriers: 7

GenotypeQuality
all individuals: 34
bin: 9.25e1
variant carriers: 12

Latino
type: Population
allele count: 8
allele frequency: 4.37636761487965e-3
allele num: 1828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 3.364284753061499e-4
allele num: 14862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

African
type: Population
allele count: 116
allele frequency: 6.996381182147166e-2
allele num: 1658
num of homozygotes: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.38e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 5.57523e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.348e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 1.094e0

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

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

GenotypeQuality
all individuals: 5150
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1566
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.57514e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.97e-2

MQ
type: SiteQuality
SIO_000300: 5.705e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 6.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5595
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1986
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1534
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.65874e5

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.88e-2

QD
type: SiteQuality
SIO_000300: 6.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: -2.263e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.763e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.754e0

GenotypeQuality
all individuals: 501
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.325910931174089e-5
allele num: 15808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1652
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.75e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.057e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

MQ
type: SiteQuality
SIO_000300: 5.682e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

DP
type: SiteQuality
SIO_000300: 5.73168e5

GenotypeQuality
all individuals: 1551
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.231982259455464e-4
allele num: 16234
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 4.608294930875576e-4
allele num: 2170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1742
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.62e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

FS
type: SiteQuality
SIO_000300: 3.273e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.98e-1

QD
type: SiteQuality
SIO_000300: 1.05e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 5.81829e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1500
bin: 1.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1740
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.078050884001725e-4
allele num: 9276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.588e0

QD
type: SiteQuality
SIO_000300: 1.033e1

VQSLOD
type: SiteQuality
SIO_000300: -9.813e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.64e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 5.83501e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.117e0

GenotypeQuality
all individuals: 136
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 9.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.1020258725897e-5
allele num: 16388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1698
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.67e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.732e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 5.811e1

QD
type: SiteQuality
SIO_000300: 1.438e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 2.185e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 5.84076e5

GenotypeQuality
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.08e0

DP
type: SiteQuality
SIO_000300: 5.8735e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 164
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1800
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.076658053402239e-4
allele num: 9288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2624
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

DP
type: SiteQuality
SIO_000300: 5.90136e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-2

QD
type: SiteQuality
SIO_000300: 1.013e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

GenotypeQuality
all individuals: 1292
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.802281368821293e-4
allele num: 2630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2076
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 6.46551724137931e-4
allele num: 9280
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.301e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.07e-1

DP
type: SiteQuality
SIO_000300: 5.86682e5

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

GenotypeQuality
all individuals: 1981
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2660
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2088
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 2.185792349726776e-3
allele num: 1830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.74e-1

DP
type: SiteQuality
SIO_000300: 5.8537e5

QD
type: SiteQuality
SIO_000300: 1.24e1

VQSLOD
type: SiteQuality
SIO_000300: 3.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.71e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 149
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 13
allele frequency: 6.21414913957935e-3
allele num: 2092
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.81e-2

FS
type: SiteQuality
SIO_000300: 2.082e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

DP
type: SiteQuality
SIO_000300: 5.7878e5

GenotypeQuality
all individuals: 219
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1772
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.155624036979969e-3
allele num: 2596
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.91e-2

FS
type: SiteQuality
SIO_000300: 1.077e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.796e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

DP
type: SiteQuality
SIO_000300: 5.70124e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 5.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 166
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2580
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.085776330076004e-4
allele num: 9210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.95e-2

QD
type: SiteQuality
SIO_000300: 1.239e1

FS
type: SiteQuality
SIO_000300: 7.926e0

VQSLOD
type: SiteQuality
SIO_000300: -2.859e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.66749e5

GenotypeQuality
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9170
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.574136008918618e-4
allele num: 1794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e-1

FS
type: SiteQuality
SIO_000300: 2.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.65e-2

DP
type: SiteQuality
SIO_000300: 5.5648e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

GenotypeQuality
all individuals: 395
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

East Asian
type: Population
allele count: 28
allele frequency: 1.415571284125379e-2
allele num: 1978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2498
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 1.015e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.12e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

FS
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 5.52543e5

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

GenotypeQuality
all individuals: 16
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2480
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e0

MQ
type: SiteQuality
SIO_000300: 5.811e1

FS
type: SiteQuality
SIO_000300: 6.854e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.219e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

DP
type: SiteQuality
SIO_000300: 5.48824e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.18e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.989e0

GenotypeQuality
all individuals: 167
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 373
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 2.04582651391162e-3
allele num: 2444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1912
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.88988282726471e-4
allele num: 15874
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.068e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-2

FS
type: SiteQuality
SIO_000300: 9.862e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

DP
type: SiteQuality
SIO_000300: 5.47154e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

QD
type: SiteQuality
SIO_000300: 1.192e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4553
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1547
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.30119722747322e-5
allele num: 15870
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 5.46283e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.27e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

QD
type: SiteQuality
SIO_000300: 7.71e0

GenotypeQuality
all individuals: 45
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.507027589796981e-5
allele num: 15368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1688
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 5.37574e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.926e0

VQSLOD
type: SiteQuality
SIO_000300: -1.745e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.41e-2

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1458
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.002670226969293e-3
allele num: 1498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13938
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8982
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.702e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.39e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

DP
type: SiteQuality
SIO_000300: 5.28696e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.149e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.165376898824878e-5
allele num: 13956
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9006
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 1.0414e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.33e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.018e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.30004e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

GenotypeQuality
all individuals: 371
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9012
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.099247479767145e-5
allele num: 14086
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.81e0

FS
type: SiteQuality
SIO_000300: 7.259e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.28e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.32e-1

MQ
type: SiteQuality
SIO_000300: 5.662e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 5.32197e5

GenotypeQuality
all individuals: 17
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 667
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.107910480833149e-4
allele num: 9026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2096
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.065e0

DP
type: SiteQuality
SIO_000300: 5.35175e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 1.1761e1

QD
type: SiteQuality
SIO_000300: 1.785e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.24e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2827
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1672
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 6.459948320413437e-4
allele num: 1548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14984
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.66e-2

FS
type: SiteQuality
SIO_000300: 4.614e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 5.51885e5

GenotypeQuality
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2324
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.086012163336229e-4
allele num: 9208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1632
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.869e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-2

DP
type: SiteQuality
SIO_000300: 5.60061e5

QD
type: SiteQuality
SIO_000300: 1.473e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.034e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.76e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-2

MQ
type: SiteQuality
SIO_000300: 5.929e1

GenotypeQuality
all individuals: 175
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2413
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.03327133705311e-4
allele num: 9678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

African
type: Population
allele count: 18
allele frequency: 9.09090909090909e-3
allele num: 1980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2236
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 6.958942240779402e-4
allele num: 2874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1002
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.347021708908138e-5
allele num: 18702
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.13112e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.21e-2

QD
type: SiteQuality
SIO_000300: 1.216e1

GenotypeQuality
all individuals: 321
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1070
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.100999795960008e-5
allele num: 19604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9834
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.698e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.84e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 6.25919e5

GenotypeQuality
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2828
num of homozygotes: 0