5-94994285-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994285
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994285
    reference: chr 5
allele count: 6
allele frequency: 5.487771416027951e-5
allele num: 109334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.*6+36A>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.*6+36A>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+191A>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.47+473T>C
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.*42A>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.553A>G
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7596
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6531
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5499
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3950
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

5-94994286-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994286
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994286
    reference: chr 5
allele count: 1
allele frequency: 9.145449224465906e-6
allele num: 109344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.552A>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+190A>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.47+474T>G
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.*41A>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.*6+35A>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.*6+35A>C
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5534
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

5-94994292-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994292
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994292
    reference: chr 5
allele count: 2
allele frequency: 1.823885605894798e-5
allele num: 109656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.*6+29C>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.*6+29C>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.47+480G>C
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.*35C>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.546C>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+184C>G
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4859
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5793
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-94994296-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994296
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994294
    reference: chr 5
allele count: 1
allele frequency: 9.082652134423252e-6
allele num: 110100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.540_541delAG
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.*29_*30delAG
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.*6+23_*6+24delAG
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.47+487_47+488delCT
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+178_728+179delAG
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.*6+23_*6+24delAG
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10517
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6551
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21920
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3520
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: ACT
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

5-94994300-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994300
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994300
    reference: chr 5
allele count: 2
allele frequency: 1.807076511619502e-5
allele num: 110676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.*6+21A>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.538A>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.*27A>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+176A>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.47+488T>C
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.*6+21A>G
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4794
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

5-94994303-AGTTCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994303
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994298
    reference: chr 5
allele count: 6
allele frequency: 5.40491847581299e-5
allele num: 111010
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.*19_*23delAGAAC
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+168_728+172delAGAAC
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.*6+13_*6+17delAGAAC
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.*6+13_*6+17delAGAAC
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.47+496_47+500delTGTTC
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.530_534delAGAAC
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25647
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11221
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6579
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6343
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: AGTTCT
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

5-94994305-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994305
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994305
    reference: chr 5
allele count: 1
allele frequency: 8.985533291400844e-6
allele num: 111290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*482A>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.47+493T>G
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.*6+16A>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.*22A>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.*6+16A>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.533A>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+171A>C
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11394
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6431
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6576
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4724
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

5-94994320-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994320
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994320
    reference: chr 5
allele count: 1
allele frequency: 8.690966609306287e-6
allele num: 115062
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.47+508C>G
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*467G>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+156G>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.*7G>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.*6+1G>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.518G>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.*6+1G>C
  variant of: http://identifiers.org/hgnc/22988
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6632
  bin: 9.75e1
  variant carriers: 1
hgvs: c.*6+1G>C
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD

5-94994321-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994321
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994321
    reference: chr 5
allele count: 1
allele frequency: 8.665210911233579e-6
allele num: 115404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+155G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.47+509C>T
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.*6G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*466G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.*6G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.517G>A
  variant of: http://identifiers.org/hgnc/22988
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12398
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6635
  bin: 9.75e1
  variant carriers: 1
hgvs: c.*6G>A
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

5-94994323-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994323
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994323
    reference: chr 5
allele count: 1
allele frequency: 8.627383314640669e-6
allele num: 115910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+153C>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.515C>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.*4C>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.*4C>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*464C>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.*4C>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.47+511G>C
  variant of: http://identifiers.org/hgnc/29587
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7003
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
hgvs: c.*4C>G
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

5-94994339-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994339
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994339
    reference: chr 5
allele count: 22951
allele frequency: 1.924741282434042e-1
allele num: 119242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.499T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.47+527A>G
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.753T>C
  hgvsp: ENST00000274432.8:c.753T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.525T>C
  hgvsp: ENST00000477715.1:c.525T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.753T>C
  hgvsp: ENST00000316087.8:c.753T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*448T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+137T>C
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 9.75e1
  variant carriers: 1610
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 3.75e1
  variant carriers: 2061
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 6.75e1
  variant carriers: 947
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 4.75e1
  variant carriers: 2298
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 6.25e1
  variant carriers: 1345
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 239
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 735
genotype depth: GenotypeDepth
  all individuals: 10176
  bin: 2.75e1
  variant carriers: 1264
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 289
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 4.25e1
  variant carriers: 2302
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.75e1
  variant carriers: 471
genotype depth: GenotypeDepth
  all individuals: 20765
  bin: 2.25e1
  variant carriers: 734
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 5.75e1
  variant carriers: 1736
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 3.25e1
  variant carriers: 1767
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.75e1
  variant carriers: 278
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 5.25e1
  variant carriers: 2030
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 412
genotype quality: GenotypeQuality
  all individuals: 24323
  bin: 9.75e1
  variant carriers: 20026
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 2.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 20824
  bin: 6.25e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 7.75e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 13
hgvs: p.Asn251Asn
num of homozygotes: 2386
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

5-94994341-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994341
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994341
    reference: chr 5
allele count: 1
allele frequency: 8.365400702693659e-6
allele num: 119540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.497A>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.47+529T>G
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.751A>C
  hgvsp: ENSP00000325491.8:p.Asn251His
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.523A>C
  hgvsp: ENSP00000427257.1:p.Asn175His
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.751A>C
  hgvsp: ENSP00000274432.8:p.Asn251His
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+135A>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*446A>C
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12541
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn251His
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

5-94994342-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994342
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994342
    reference: chr 5
allele count: 3
allele frequency: 2.508822693137534e-5
allele num: 119578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+134G>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.750G>C
  hgvsp: ENSP00000274432.8:p.Met250Ile
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.522G>C
  hgvsp: ENSP00000427257.1:p.Met174Ile
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.47+530C>G
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.750G>C
  hgvsp: ENSP00000325491.8:p.Met250Ile
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*445G>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.496G>C
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4782
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25194
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met250Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

5-94994347-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994347
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994347
    reference: chr 5
allele count: 1
allele frequency: 8.340144451301897e-6
allele num: 119902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.517G>A
  hgvsp: ENSP00000427257.1:p.Glu173Lys
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.491G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.745G>A
  hgvsp: ENSP00000325491.8:p.Glu249Lys
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.47+535C>T
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*440G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+129G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.745G>A
  hgvsp: ENSP00000274432.8:p.Glu249Lys
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25509
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11970
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu249Lys
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum

5-94994352-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994352
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994352
    reference: chr 5
allele count: 1
allele frequency: 8.318360284820657e-6
allele num: 120216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+124C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.740C>T
  hgvsp: ENSP00000274432.8:p.Ser247Leu
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.47+540G>A
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.512C>T
  hgvsp: ENSP00000427257.1:p.Ser171Leu
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*435C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.486C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.740C>T
  hgvsp: ENSP00000325491.8:p.Ser247Leu
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11963
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser247Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

5-94994354-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994354
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994354
    reference: chr 5
allele count: 2
allele frequency: 1.662538030557449e-5
allele num: 120298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.510A>G
  hgvsp: ENST00000477715.1:c.510A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*433A>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.738A>G
  hgvsp: ENST00000274432.8:c.738A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.47+542T>C
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.484A>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.738A>G
  hgvsp: ENST00000316087.8:c.738A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+122A>G
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln246Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-94994361-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994361
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994359
    reference: chr 5
allele count: 3
allele frequency: 2.489915840844579e-5
allele num: 120486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.475_476delGT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+113_728+114delGT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.729_730delGT
  hgvsp: ENSP00000325491.8:p.Phe244Ter
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*424_*425delGT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.47+553_47+554delCA
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.729_730delGT
  hgvsp: ENSP00000274432.8:p.Phe244Ter
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.501_502delGT
  hgvsp: ENSP00000427257.1:p.Phe168Ter
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13092
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11955
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe244Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: AAC
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

5-94994391-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994391
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994391
    reference: chr 5
allele count: 2
allele frequency: 1.655875875544369e-5
allele num: 120782
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.701G>A
  hgvsp: ENSP00000274432.8:p.Ser234Asn
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.473G>A
  hgvsp: ENSP00000427257.1:p.Ser158Asn
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.47+579C>T
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*396G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+85G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.447G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.701G>A
  hgvsp: ENSP00000325491.8:p.Ser234Asn
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13386
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11950
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser234Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-94994400-T-TAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994400
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994403
    reference: chr 5
allele count: 2
allele frequency: 1.655053706492776e-5
allele num: 120842
alternate allele: TAAA
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.463_464insTTT
  hgvsp: ENSP00000427257.1:p.Asn155delinsIleTyr
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+75_728+76insTTT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*386_*387insTTT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: protein_altering_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.691_692insTTT
  hgvsp: ENSP00000274432.8:p.Asn231delinsIleTyr
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.47+588_47+589insAAA
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.691_692insTTT
  hgvsp: ENSP00000325491.8:p.Asn231delinsIleTyr
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.437_438insTTT
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: protein altering
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6946
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn231delinsIleTyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

5-94994410-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994410
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994410
    reference: chr 5
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.682C>G
  hgvsp: ENSP00000274432.8:p.Leu228Val
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.454C>G
  hgvsp: ENSP00000427257.1:p.Leu152Val
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.428C>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*377C>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.682C>G
  hgvsp: ENSP00000325491.8:p.Leu228Val
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-592G>C
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+66C>G
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3406
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu228Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

5-94994416-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994416
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994416
    reference: chr 5
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*371C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.448C>T
  hgvsp: ENSP00000427257.1:p.Pro150Ser
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.676C>T
  hgvsp: ENSP00000325491.8:p.Pro226Ser
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.676C>T
  hgvsp: ENSP00000274432.8:p.Pro226Ser
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-586G>A
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.422C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+60C>T
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro226Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

5-94994433-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994433
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994433
    reference: chr 5
allele count: 3
allele frequency: 2.478110028085247e-5
allele num: 121060
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.659C>T
  hgvsp: ENSP00000274432.8:p.Pro220Leu
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.659C>T
  hgvsp: ENSP00000325491.8:p.Pro220Leu
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*354C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-569G>A
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.431C>T
  hgvsp: ENSP00000427257.1:p.Pro144Leu
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.405C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+43C>T
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11952
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro220Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-94994435-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994435
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994435
    reference: chr 5
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.429G>A
  hgvsp: ENST00000477715.1:c.429G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.657G>A
  hgvsp: ENST00000316087.8:c.657G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.657G>A
  hgvsp: ENST00000274432.8:c.657G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-567C>T
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*352G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+41G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.403G>A
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys219Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

5-94994441-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994441
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994441
    reference: chr 5
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.651G>A
  hgvsp: ENST00000316087.8:c.651G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.423G>A
  hgvsp: ENST00000477715.1:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*346G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.651G>A
  hgvsp: ENST00000274432.8:c.651G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-561C>T
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+35G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.397G>A
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro217Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

5-94994442-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994442
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994442
    reference: chr 5
allele count: 3
allele frequency: 2.477373323644051e-5
allele num: 121096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.650C>T
  hgvsp: ENSP00000325491.8:p.Pro217Leu
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.396C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-560G>A
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.422C>T
  hgvsp: ENSP00000427257.1:p.Pro141Leu
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.650C>T
  hgvsp: ENSP00000274432.8:p.Pro217Leu
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+34C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*345C>T
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro217Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

5-94994443-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994443
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994443
    reference: chr 5
allele count: 1
allele frequency: 8.258047467256841e-6
allele num: 121094
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.649C>G
  hgvsp: ENSP00000325491.8:p.Pro217Ala
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*344C>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.649C>G
  hgvsp: ENSP00000274432.8:p.Pro217Ala
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-559G>C
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.421C>G
  hgvsp: ENSP00000427257.1:p.Pro141Ala
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+33C>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.395C>G
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro217Ala
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

5-94994443-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994443
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994443
    reference: chr 5
allele count: 1
allele frequency: 8.258047467256841e-6
allele num: 121094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+33C>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.395C>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.649C>A
  hgvsp: ENSP00000325491.8:p.Pro217Thr
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-559G>T
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*344C>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.421C>A
  hgvsp: ENSP00000427257.1:p.Pro141Thr
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.649C>A
  hgvsp: ENSP00000274432.8:p.Pro217Thr
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7012
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro217Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

5-94994444-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994444
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994444
    reference: chr 5
allele count: 1
allele frequency: 8.257911078813503e-6
allele num: 121096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*343G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.648G>A
  hgvsp: ENST00000274432.8:c.648G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.648G>A
  hgvsp: ENST00000316087.8:c.648G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+32G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.394G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-558C>T
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.420G>A
  hgvsp: ENST00000477715.1:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4322
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu216Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

5-94994446-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994446
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994446
    reference: chr 5
allele count: 5
allele frequency: 4.128273721060801e-5
allele num: 121116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-556A>G
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+30T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*341T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.418T>C
  hgvsp: ENST00000477715.1:c.418T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.646T>C
  hgvsp: ENST00000316087.8:c.646T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.646T>C
  hgvsp: ENST00000274432.8:c.646T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.392T>C
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20897
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3459
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu216Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

5-94994453-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994453
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994453
    reference: chr 5
allele count: 4
allele frequency: 3.302182742792986e-5
allele num: 121132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.639T>C
  hgvsp: ENST00000316087.8:c.639T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.639T>C
  hgvsp: ENST00000274432.8:c.639T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.411T>C
  hgvsp: ENST00000477715.1:c.411T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*334T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-549A>G
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.385T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+23T>C
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8599
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26226
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7057
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11973
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr213Tyr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

5-94994458-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994458
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994458
    reference: chr 5
allele count: 7
allele frequency: 5.777961205117623e-5
allele num: 121150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.634C>T
  hgvsp: ENSP00000325491.8:p.Pro212Ser
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+18C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-544G>A
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.380C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.406C>T
  hgvsp: ENSP00000427257.1:p.Pro136Ser
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.634C>T
  hgvsp: ENSP00000274432.8:p.Pro212Ser
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*329C>T
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro212Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

5-94994458-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994458
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994458
    reference: chr 5
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*329C>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.634C>A
  hgvsp: ENSP00000325491.8:p.Pro212Thr
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-544G>T
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.406C>A
  hgvsp: ENSP00000427257.1:p.Pro136Thr
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.634C>A
  hgvsp: ENSP00000274432.8:p.Pro212Thr
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+18C>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.380C>A
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11978
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro212Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

5-94994467-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994467
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994467
    reference: chr 5
allele count: 3678
allele frequency: 3.035505009656174e-2
allele num: 121166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.728+9A>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.625A>G
  hgvsp: ENSP00000325491.8:p.Lys209Glu
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.371A>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.397A>G
  hgvsp: ENSP00000427257.1:p.Lys133Glu
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-535T>C
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.625A>G
  hgvsp: ENSP00000274432.8:p.Lys209Glu
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*320A>G
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 3.25e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13282
  bin: 2.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 335
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.25e1
  variant carriers: 340
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 4.75e1
  variant carriers: 359
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 4.25e1
  variant carriers: 305
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.25e1
  variant carriers: 271
genotype depth: GenotypeDepth
  all individuals: 19491
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 3.75e1
  variant carriers: 238
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 8.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 243
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 9.75e1
  variant carriers: 684
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6671
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24817
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys209Glu
num of homozygotes: 106
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/5-94994483-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994483
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994483
    reference: chr 5
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*304T>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-519A>C
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.381T>G
  hgvsp: ENSP00000427257.1:p.Phe127Leu
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.355T>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.609T>G
  hgvsp: ENSP00000325491.8:p.Phe203Leu
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.609T>G
  hgvsp: ENSP00000274432.8:p.Phe203Leu
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.721T>G
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe203Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD

5-94994496-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994496
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994496
    reference: chr 5
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.708C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.342C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.596C>T
  hgvsp: ENSP00000325491.8:p.Ser199Leu
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.596C>T
  hgvsp: ENSP00000274432.8:p.Ser199Leu
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-506G>A
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*291C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.368C>T
  hgvsp: ENSP00000427257.1:p.Ser123Leu
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12668
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6989
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser199Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/5-94994503-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994503
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994502
    reference: chr 5
allele count: 2
allele frequency: 1.650110557407346e-5
allele num: 121204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*283delT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.700delT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-498delA
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.588delT
  hgvsp: ENSP00000325491.8:p.Val197CysfsTer54
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.588delT
  hgvsp: ENSP00000274432.8:p.Val197CysfsTer54
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.360delT
  hgvsp: ENSP00000427257.1:p.Val121CysfsTer54
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.334delT
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12666
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6994
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val197CysfsTer54
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: CA
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

5-94994506-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994506
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994506
    reference: chr 5
allele count: 8
allele frequency: 6.599788806758183e-5
allele num: 121216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.358C>A
  hgvsp: ENSP00000427257.1:p.Pro120Thr
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-496G>T
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.586C>A
  hgvsp: ENSP00000325491.8:p.Pro196Thr
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.698C>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.332C>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.586C>A
  hgvsp: ENSP00000274432.8:p.Pro196Thr
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*281C>A
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8794
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro196Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum

5-94994507-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994507
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994507
    reference: chr 5
allele count: 116
allele frequency: 9.570325391063296e-4
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*280G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.585G>A
  hgvsp: ENST00000316087.8:c.585G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.585G>A
  hgvsp: ENST00000274432.8:c.585G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-495C>T
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.331G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.697G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.357G>A
  hgvsp: ENST00000477715.1:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19357
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8789
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6983
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12747
  bin: 9.75e1
  variant carriers: 116
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu195Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD

5-94994512-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994512
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994512
    reference: chr 5
allele count: 69
allele frequency: 5.692317845828933e-4
allele num: 121216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-490A>G
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.352T>C
  hgvsp: ENSP00000427257.1:p.Ser118Pro
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.692T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.580T>C
  hgvsp: ENSP00000274432.8:p.Ser194Pro
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.326T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*275T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.580T>C
  hgvsp: ENSP00000325491.8:p.Ser194Pro
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8793
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 6985
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser194Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

5-94994516-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994516
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994516
    reference: chr 5
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-486G>T
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.688C>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*271C>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.576C>A
  hgvsp: ENST00000316087.8:c.576C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.576C>A
  hgvsp: ENST00000274432.8:c.576C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.348C>A
  hgvsp: ENST00000477715.1:c.348C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.322C>A
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12696
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala192Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-94994517-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994517
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994517
    reference: chr 5
allele count: 3
allele frequency: 2.474757473767571e-5
allele num: 121224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.347C>A
  hgvsp: ENSP00000427257.1:p.Ala116Asp
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.575C>A
  hgvsp: ENSP00000325491.8:p.Ala192Asp
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.575C>A
  hgvsp: ENSP00000274432.8:p.Ala192Asp
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.687C>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*270C>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.321C>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-485G>T
  variant of: http://identifiers.org/hgnc/29587
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12703
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25745
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala192Asp
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

5-94994528-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994528
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994528
    reference: chr 5
allele count: 23
allele frequency: 1.897063675354668e-4
allele num: 121240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.676T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.564T>C
  hgvsp: ENST00000316087.8:c.564T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-474A>G
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.564T>C
  hgvsp: ENST00000274432.8:c.564T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*259T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.310T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.336T>C
  hgvsp: ENST00000477715.1:c.336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14068
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn188Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ

5-94994536-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994536
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994536
    reference: chr 5
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.556A>T
  hgvsp: ENSP00000325491.8:p.Ser186Cys
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*251A>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.668A>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.328A>T
  hgvsp: ENSP00000427257.1:p.Ser110Cys
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-466T>A
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.556A>T
  hgvsp: ENSP00000274432.8:p.Ser186Cys
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.302A>T
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14083
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser186Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/5-94994537-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994537
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994537
    reference: chr 5
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.555G>T
  hgvsp: ENSP00000274432.8:p.Glu185Asp
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-465C>A
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.555G>T
  hgvsp: ENSP00000325491.8:p.Glu185Asp
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.667G>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.327G>T
  hgvsp: ENSP00000427257.1:p.Glu109Asp
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.301G>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*250G>T
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14087
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu185Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

5-94994539-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994539
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994539
    reference: chr 5
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-463C>T
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.299G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.325G>A
  hgvsp: ENSP00000427257.1:p.Glu109Lys
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.553G>A
  hgvsp: ENSP00000274432.8:p.Glu185Lys
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.665G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.553G>A
  hgvsp: ENSP00000325491.8:p.Glu185Lys
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*248G>A
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12705
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu185Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

5-94994543-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994543
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994543
    reference: chr 5
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-459T>A
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.295A>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*244A>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.321A>T
  hgvsp: ENSP00000427257.1:p.Arg107Ser
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.549A>T
  hgvsp: ENSP00000274432.8:p.Arg183Ser
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.661A>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.549A>T
  hgvsp: ENSP00000325491.8:p.Arg183Ser
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg183Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

5-94994544-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994544
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994544
    reference: chr 5
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.548G>A
  hgvsp: ENSP00000274432.8:p.Arg183Lys
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.548G>A
  hgvsp: ENSP00000325491.8:p.Arg183Lys
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-458C>T
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.294G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.660G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.320G>A
  hgvsp: ENSP00000427257.1:p.Arg107Lys
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*243G>A
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14088
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25852
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg183Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

5-94994557-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994557
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994557
    reference: chr 5
allele count: 3
allele frequency: 2.474594166556685e-5
allele num: 121232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.535A>G
  hgvsp: ENSP00000325491.8:p.Ile179Val
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*230A>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.281A>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.535A>G
  hgvsp: ENSP00000274432.8:p.Ile179Val
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.307A>G
  hgvsp: ENSP00000427257.1:p.Ile103Val
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-445T>C
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.647A>G
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6994
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12709
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3499
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile179Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

5-94994558-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994558
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994558
    reference: chr 5
allele count: 4
allele frequency: 3.299513321785036e-5
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.534C>T
  hgvsp: ENST00000316087.8:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.534C>T
  hgvsp: ENST00000274432.8:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.306C>T
  hgvsp: ENST00000477715.1:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.280C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.646C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*229C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-444G>A
  variant of: http://identifiers.org/hgnc/29587
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6990
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25847
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser178Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

5-94994559-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994559
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994559
    reference: chr 5
allele count: 6
allele frequency: 4.949596607876458e-5
allele num: 121222
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.533C>A
  hgvsp: ENSP00000274432.8:p.Ser178Tyr
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-443G>T
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*228C>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.533C>A
  hgvsp: ENSP00000325491.8:p.Ser178Tyr
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.645C>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.279C>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.305C>A
  hgvsp: ENSP00000427257.1:p.Ser102Tyr
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser178Tyr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

5-94994591-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994591
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994591
    reference: chr 5
allele count: 1
allele frequency: 8.299306178003518e-6
allele num: 120492
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.247G>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.501G>C
  hgvsp: ENSP00000274432.8:p.Lys167Asn
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.613G>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.273G>C
  hgvsp: ENSP00000427257.1:p.Lys91Asn
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.501G>C
  hgvsp: ENSP00000325491.8:p.Lys167Asn
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*196G>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-411C>G
  variant of: http://identifiers.org/hgnc/29587
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24954
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys167Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/5-94994594-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994594
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994594
    reference: chr 5
allele count: 1
allele frequency: 8.311032063961702e-6
allele num: 120322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*193G>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.498G>T
  hgvsp: ENST00000316087.8:c.498G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.498G>T
  hgvsp: ENST00000274432.8:c.498G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.610G>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.270G>T
  hgvsp: ENST00000477715.1:c.270G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-408C>A
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.244G>T
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12714
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu166Leu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

5-94994599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994599
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994599
    reference: chr 5
allele count: 1
allele frequency: 8.33694600993764e-6
allele num: 119948
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.493G>A
  hgvsp: ENSP00000274432.8:p.Val165Met
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.493G>A
  hgvsp: ENSP00000325491.8:p.Val165Met
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.605G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.265G>A
  hgvsp: ENSP00000427257.1:p.Val89Met
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.239G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-403C>T
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*188G>A
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val165Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum

5-94994605-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994605
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994604
    reference: chr 5
allele count: 1
allele frequency: 8.386588168201411e-6
allele num: 119238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.258delT
  hgvsp: ENSP00000427257.1:p.Asn87MetfsTer4
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.232delT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.598delT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.486delT
  hgvsp: ENSP00000325491.8:p.Asn163MetfsTer4
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*181delT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.486delT
  hgvsp: ENSP00000274432.8:p.Asn163MetfsTer4
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-395delA
  variant of: http://identifiers.org/hgnc/29587
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn163MetfsTer4
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: TA
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

5-94994616-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994616
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994616
    reference: chr 5
allele count: 1
allele frequency: 8.498920637079091e-6
allele num: 117662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.248C>G
  hgvsp: ENSP00000427257.1:p.Ala83Gly
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.222C>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.588C>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.476C>G
  hgvsp: ENSP00000274432.8:p.Ala159Gly
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.476C>G
  hgvsp: ENSP00000325491.8:p.Ala159Gly
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*171C>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-386G>C
  variant of: http://identifiers.org/hgnc/29587
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12714
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3444
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala159Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

5-94994620-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994620
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994620
    reference: chr 5
allele count: 4
allele frequency: 3.418102269619907e-5
allele num: 117024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*170-3T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.221-3T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.587-3T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-382A>G
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.475-3T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.475-3T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.247-3T>C
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
hgvs: c.475-3T>C
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/5-94994630-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994630
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994630
    reference: chr 5
allele count: 1
allele frequency: 8.641996646905302e-6
allele num: 115714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-372A>C
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*170-13T>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.475-13T>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.475-13T>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.247-13T>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.221-13T>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.587-13T>G
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

5-94994642-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994642
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994642
    reference: chr 5
allele count: 1
allele frequency: 8.755034144633164e-6
allele num: 114220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*170-25T>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.221-25T>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.475-25T>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-360A>T
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.475-25T>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.247-25T>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.587-25T>A
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

5-94994663-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94994663
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94994663
    reference: chr 5
allele count: 1
allele frequency: 8.952230895939268e-6
allele num: 111704
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.48-339A>G
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.475-46T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*170-46T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.475-46T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.221-46T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.247-46T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.587-46T>C
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

5-94999609-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94999609
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94999609
    reference: chr 5
allele count: 4
allele frequency: 1.279836180968836e-4
allele num: 31254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.386+4269C>T
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.474+48G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*169+48G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.246+48G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.586+48G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.474+48G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.220+48G>A
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7763
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6615
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12015
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/5-94999609-CAAAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94999609
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94999605
    reference: chr 5
allele count: 1
allele frequency: 3.19959045242209e-5
allele num: 31254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.220+44_220+47delTTTT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.246+44_246+47delTTTT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.386+4270_386+4273delAAAA
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*169+44_*169+47delTTTT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.586+44_586+47delTTTT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.474+44_474+47delTTTT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.474+44_474+47delTTTT
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22541
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7763
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12015
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6615
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: CAAAA
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

5-94999611-AAAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94999611
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94999608
    reference: chr 5
allele count: 3
allele frequency: 9.508113590263692e-5
allele num: 31552
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.474+43_474+45delATT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*169+43_*169+45delATT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.474+43_474+45delATT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.220+43_220+45delATT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.386+4274_386+4276delTAA
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.246+43_246+45delATT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.586+43_586+45delATT
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22672
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20451
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13004
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6426
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6863
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: AAAT
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

5-94999613-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94999613
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94999613
    reference: chr 5
allele count: 1
allele frequency: 3.154176129195054e-5
allele num: 31704
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*169+44T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.474+44T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.220+44T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.386+4273A>G
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.586+44T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.246+44T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.474+44T>C
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5539
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14778
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

5-94999614-TAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94999614
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94999611
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 31686
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.474+40_474+42delCTT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.474+40_474+42delCTT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.220+40_220+42delCTT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.246+40_246+42delCTT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.586+40_586+42delCTT
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.386+4275_386+4277delAAG
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*169+40_*169+42delCTT
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23177
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20021
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5530
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15075
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15307
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: TAAG
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

5-94999617-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94999617
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94999617
    reference: chr 5
allele count: 2
allele frequency: 6.260956674179814e-5
allele num: 31944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.386+4277G>A
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.474+40C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*169+40C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.246+40C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.474+40C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.586+40C>T
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.220+40C>T
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7810
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23934
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17713
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3959
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3293
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

5-94999619-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94999619
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94999618
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 32396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.386+4280delG
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.586+37delC
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.474+37delC
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.246+37delC
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.474+37delC
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.220+37delC
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*169+37delC
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24592
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15399
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4585
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: AG
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

5-94999639-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94999639
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94999639
    reference: chr 5
allele count: 1
allele frequency: 2.518384204694268e-5
allele num: 39708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.474+18T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*169+18T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.474+18T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.386+4299A>G
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.246+18T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.586+18T>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.220+18T>C
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6827
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

5-94999645-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94999645
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94999645
    reference: chr 5
allele count: 1
allele frequency: 2.232242510826376e-5
allele num: 44798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.246+12A>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.220+12A>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.586+12A>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.474+12A>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.386+4305T>G
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.474+12A>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*169+12A>C
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33009
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4757
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

5-94999652-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94999652
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94999652
    reference: chr 5
allele count: 2
allele frequency: 3.713882492757929e-5
allele num: 53852
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.474+5G>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.220+5G>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.586+5G>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.246+5G>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*169+5G>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.474+5G>C
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.386+4312C>G
  variant of: http://identifiers.org/hgnc/29587
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29990
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18487
  bin: 6.25e1
  variant carriers: 0
hgvs: c.474+5G>C
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

5-94999657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94999657
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94999657
    reference: chr 5
allele count: 1
allele frequency: 1.630044989241703e-5
allele num: 61348
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.474G>A
  hgvsp: ENST00000274432.8:c.474G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.474G>A
  hgvsp: ENST00000316087.8:c.474G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.386+4317C>T
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.586G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.220G>A
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.246G>A
  hgvsp: ENST00000477715.1:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*169G>A
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
hgvs: c.474G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-94999665-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94999665
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94999665
    reference: chr 5
allele count: 1
allele frequency: 1.417313906684052e-5
allele num: 70556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.238A>G
  hgvsp: ENSP00000427257.1:p.Ile80Val
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*161A>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.578A>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.212A>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.466A>G
  hgvsp: ENSP00000325491.8:p.Ile156Val
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.386+4325T>C
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.466A>G
  hgvsp: ENSP00000274432.8:p.Ile156Val
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile156Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/5-94999700-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 94999700
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 94999700
    reference: chr 5
allele count: 3
allele frequency: 3.204032809295967e-5
allele num: 93632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000477047
  gene symbol: SPATA9
  hgvsc: ENST00000477047.2:n.543T>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000427257
  ensembl transcript: ENST00000477715
  gene symbol: SPATA9
  hgvsc: ENST00000477715.1:c.203T>G
  hgvsp: ENSP00000427257.1:p.Leu68Ter
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175449
  ensembl transcript: ENST00000508206
  gene symbol: RFESD
  hgvsc: ENST00000508206.1:n.386+4360A>C
  variant of: http://identifiers.org/hgnc/29587
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000325491
  ensembl transcript: ENST00000316087
  gene symbol: SPATA9
  hgvsc: ENST00000316087.8:c.431T>G
  hgvsp: ENSP00000325491.8:p.Leu144Ter
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000420883
  ensembl transcript: ENST00000489917
  gene symbol: SPATA9
  hgvsc: ENST00000489917.1:c.*126T>G
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000145757
  ensembl protein: ENSP00000274432
  ensembl transcript: ENST00000274432
  gene symbol: SPATA9
  hgvsc: ENST00000274432.8:c.431T>G
  hgvsp: ENSP00000274432.8:p.Leu144Ter
  variant of: http://identifiers.org/hgnc/22988
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145757
  ensembl transcript: ENST00000379990
  gene symbol: SPATA9
  hgvsc: ENST00000379990.5:n.177T>G
  variant of: http://identifiers.org/hgnc/22988
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36626
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13991
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu144Ter
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 519
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3239
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2031
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 6
allele frequency: 5.681818181818182e-4
allele num: 10560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11128
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

FS
type: SiteQuality
SIO_000300: 5.068e0

VQSLOD
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

QD
type: SiteQuality
SIO_000300: 1.528e1

DP
type: SiteQuality
SIO_000300: 1.454408e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2803
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2380
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2397
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3835
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6527
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 657
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.597393054534999e-5
allele num: 62602
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: 812
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.109e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

FS
type: SiteQuality
SIO_000300: 2.945e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

DP
type: SiteQuality
SIO_000300: 1.459051e6

MQ
type: SiteQuality
SIO_000300: 5.711e1

QD
type: SiteQuality
SIO_000300: 1.189e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e0

MQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

GenotypeQuality
all individuals: 713
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6540
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2473
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19911
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1431
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.129018522461145e-4
allele num: 9394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10698
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 1.494575e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

QD
type: SiteQuality
SIO_000300: 1.63e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e-1

GenotypeQuality
all individuals: 4901
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6041
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2551
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.589521871820956e-5
allele num: 62912
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 1.515716e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 2.037e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.246e0

GenotypeQuality
all individuals: 1045
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23207
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6569
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 649
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2615
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.167263167896621e-5
allele num: 63146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11106
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9450
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.948e0

DP
type: SiteQuality
SIO_000300: 1.538104e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e-1

QD
type: SiteQuality
SIO_000300: 1.538e1

GenotypeQuality
all individuals: 128
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4745
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24258
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
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variant carriers: 0

GenotypeQuality
all individuals: 522
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variant carriers: 0

GenotypeQuality
all individuals: 1888
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variant carriers: 0

GenotypeQuality
all individuals: 1500
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variant carriers: 0

GenotypeQuality
all individuals: 2685
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
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variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.204819277108434e-3
allele num: 830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.16035648821187e-5
allele num: 63284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.606879606879607e-4
allele num: 6512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9480
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

MQ
type: SiteQuality
SIO_000300: 5.114e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

FS
type: SiteQuality
SIO_000300: 1.3458e1

DP
type: SiteQuality
SIO_000300: 1.553647e6

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -3.669e0

VQSLOD
type: SiteQuality
SIO_000300: -3.346e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.17e-1

GenotypeQuality
all individuals: 101
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1161
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2729
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variant carriers: 0

GenotypeQuality
all individuals: 1076
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variant carriers: 0

GenotypeQuality
all individuals: 25380
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2691
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.926977325477593e-5
allele num: 11202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

FS
type: SiteQuality
SIO_000300: 7.258e0

VQSLOD
type: SiteQuality
SIO_000300: -3.745e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

DP
type: SiteQuality
SIO_000300: 1.563255e6

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

QD
type: SiteQuality
SIO_000300: 1.557e1

GenotypeQuality
all individuals: 3984
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2922
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variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.830801836806782e-5
allele num: 11324
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13310
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.152e0

DP
type: SiteQuality
SIO_000300: 1.628878e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

QD
type: SiteQuality
SIO_000300: 6.96e0

MQ
type: SiteQuality
SIO_000300: 5.874e1

VQSLOD
type: SiteQuality
SIO_000300: -1.834e0

GenotypeQuality
all individuals: 6956
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2942
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
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GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 182
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GenotypeQuality
all individuals: 4008
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GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
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GenotypeQuality
all individuals: 1140
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variant carriers: 0

GenotypeQuality
all individuals: 2887
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.024800163968026e-4
allele num: 9758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13506
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.531e0

QD
type: SiteQuality
SIO_000300: 1.308e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

DP
type: SiteQuality
SIO_000300: 1.632817e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 8.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

GenotypeQuality
all individuals: 159
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
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variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 124
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2920
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GenotypeQuality
all individuals: 6644
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GenotypeQuality
all individuals: 1618
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GenotypeQuality
all individuals: 4045
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.022285831118381e-4
allele num: 9782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64992
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13784
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
type: SiteQuality
SIO_000300: 8.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.36e-1

DP
type: SiteQuality
SIO_000300: 1.639011e6

FS
type: SiteQuality
SIO_000300: 8.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 9.98e0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 11

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 9

GenotypeQuality
all individuals: 146
bin: 5.25e1
variant carriers: 22

GenotypeQuality
all individuals: 2008
bin: 8.25e1
variant carriers: 73

GenotypeQuality
all individuals: 4746
bin: 6.75e1
variant carriers: 43

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 15

GenotypeQuality
all individuals: 196
bin: 3.25e1
variant carriers: 19

GenotypeQuality
all individuals: 1132
bin: 9.25e1
variant carriers: 86

GenotypeQuality
all individuals: 130
bin: 5.75e1
variant carriers: 30

GenotypeQuality
all individuals: 813
bin: 8.75e1
variant carriers: 67

GenotypeQuality
all individuals: 1981
bin: 7.25e1
variant carriers: 45

European (Finnish)
type: Population
allele count: 1905
allele frequency: 2.896897810218978e-1
allele num: 6576
num of homozygotes: 274

European (Non-Finnish)
type: Population
allele count: 14729
allele frequency: 2.231599042453259e-1
allele num: 66002
num of homozygotes: 1624

Other
type: Population
allele count: 169
allele frequency: 1.903153153153153e-1
allele num: 888
num of homozygotes: 10

Latino
type: Population
allele count: 1918
allele frequency: 1.678921568627451e-1
allele num: 11424
num of homozygotes: 165

East Asian
type: Population
allele count: 1217
allele frequency: 1.414458391445839e-1
allele num: 8604
num of homozygotes: 91

South Asian
type: Population
allele count: 2521
allele frequency: 1.596377912867274e-1
allele num: 15792
num of homozygotes: 205

African
type: Population
allele count: 492
allele frequency: 4.941743672157493e-2
allele num: 9956
num of homozygotes: 17

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.63e-2

FS
type: SiteQuality
SIO_000300: 1.192e0

MQ
type: SiteQuality
SIO_000300: 5.874e1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 2.239129e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.382e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
SIO_000300: 1.476e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

GenotypeQuality
all individuals: 171
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11971
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 158
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3407
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6784
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variant carriers: 0

GenotypeQuality
all individuals: 2289
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3067
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25121
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.298815822625347e-5
allele num: 15876
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 8.65e0

DP
type: SiteQuality
SIO_000300: 1.95343e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.209e0

FS
type: SiteQuality
SIO_000300: 7.156e0

VQSLOD
type: SiteQuality
SIO_000300: -5.385e-1

GenotypeQuality
all individuals: 192
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6766
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4208
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
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variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1633
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3399
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3053
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2287
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11971
bin: 9.75e1
variant carriers: 3

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.534187775829756e-5
allele num: 66164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.955013e6

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

FS
type: SiteQuality
SIO_000300: 6.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.685e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

QD
type: SiteQuality
SIO_000300: 2.822e1

GenotypeQuality
all individuals: 134
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 2285
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1627
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variant carriers: 0

GenotypeQuality
all individuals: 3394
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variant carriers: 0

GenotypeQuality
all individuals: 6792
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
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variant carriers: 0

GenotypeQuality
all individuals: 4215
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66240
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16102
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.873e1

QD
type: SiteQuality
SIO_000300: 1.287e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.275e-1

FS
type: SiteQuality
SIO_000300: 2.356e0

DP
type: SiteQuality
SIO_000300: 1.958931e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

GenotypeQuality
all individuals: 25844
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3391
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2281
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variant carriers: 0

GenotypeQuality
all individuals: 6847
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
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variant carriers: 0

GenotypeQuality
all individuals: 1628
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4208
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66344
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16274
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.839e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 2.022e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.639e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.765e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.84e-1

DP
type: SiteQuality
SIO_000300: 1.963033e6

GenotypeQuality
all individuals: 3397
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11960
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4215
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2283
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01313727853441e-5
allele num: 66376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.924e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

DP
type: SiteQuality
SIO_000300: 1.963525e6

QD
type: SiteQuality
SIO_000300: 1.304e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.676e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

FS
type: SiteQuality
SIO_000300: 9.125999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-1

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3387
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 2277
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GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 91
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4221
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variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010416039496658e-5
allele num: 66436
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

QD
type: SiteQuality
SIO_000300: 1.345e1

DP
type: SiteQuality
SIO_000300: 1.966868e6

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.84e-1

FS
type: SiteQuality
SIO_000300: 3.835e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.15e-1

MQ
type: SiteQuality
SIO_000300: 5.9e1

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

GenotypeQuality
all individuals: 3095
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26054
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
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GenotypeQuality
all individuals: 100
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6945
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4226
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 8.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005530175522962e-5
allele num: 66544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

FS
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.01e0

DP
type: SiteQuality
SIO_000300: 1.972433e6

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

QD
type: SiteQuality
SIO_000300: 1.442e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-1

GenotypeQuality
all individuals: 114
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3089
bin: 7.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4239
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.966955153422502e-4
allele num: 10168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.662e0

FS
type: SiteQuality
SIO_000300: 7.348e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.46e-1

MQ
type: SiteQuality
SIO_000300: 5.67e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.52e-1

QD
type: SiteQuality
SIO_000300: 1.635e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.973452e6

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4251
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 77
bin: 4.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3099
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GenotypeQuality
all individuals: 1632
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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FS
type: SiteQuality
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DP
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 8.715356458079135e-5
allele num: 11474
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66594
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
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East Asian
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ReadPosRankSum
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QD
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FS
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MQRankSum
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VQSLOD
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MQ
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DP
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.548e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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FS
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MQRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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QD
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.35e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.07e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16496
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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

African
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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
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.978e0

MQRankSum
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SIO_000300: -1.026e0

FS
type: SiteQuality
SIO_000300: 4.416e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.81e-1

QD
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DP
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SIO_000300: 1.980126e6

VQSLOD
type: SiteQuality
SIO_000300: -1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10356
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.98e-1

BaseQRankSum
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SIO_000300: -1.604e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.175e0

FS
type: SiteQuality
SIO_000300: 3.254e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 1.981861e6

QD
type: SiteQuality
SIO_000300: 2.383e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10358
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.503422601176894e-5
allele num: 66616
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-1

ClippingRankSum
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SIO_000300: -5.8e-2

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.924e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

FS
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
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European (Finnish)
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allele count: 0
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ClippingRankSum
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QD
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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BaseQRankSum
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VQSLOD
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DP
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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African
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South Asian
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European (Non-Finnish)
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allele num: 66600
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Other
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FS
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MQ
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ReadPosRankSum
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MQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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South Asian
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Other
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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QD
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 9.643201542912247e-5
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.002462018855461e-5
allele num: 66612
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Latino
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European (Finnish)
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East Asian
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South Asian
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allele num: 16496
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Other
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ReadPosRankSum
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FS
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InbreedingCoeff
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VQSLOD
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SIO_000300: 2.78e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.11e-1

QD
type: SiteQuality
SIO_000300: 1.468e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

DP
type: SiteQuality
SIO_000300: 1.983389e6

MQ
type: SiteQuality
SIO_000300: 5.912e1

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2293
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1650
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3155
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4322
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.005104338687885e-5
allele num: 66610
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

DP
type: SiteQuality
SIO_000300: 1.984411e6

QD
type: SiteQuality
SIO_000300: 1.626e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.67e-1

FS
type: SiteQuality
SIO_000300: 9.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.102e0

GenotypeQuality
all individuals: 2295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26183
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11978
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 5
allele frequency: 4.815100154083205e-4
allele num: 10384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002011347602894e-5
allele num: 66622
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

QD
type: SiteQuality
SIO_000300: 1.381e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.985089e6

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

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4325
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26183
bin: 6.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

DP
type: SiteQuality
SIO_000300: 1.985089e6

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

MQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.381e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e0

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

GenotypeQuality
all individuals: 14688
bin: 9.75e1
variant carriers: 3555

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4020
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1566
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2166
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 121
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.469010175763182e-4
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 240
allele frequency: 1.454369167373652e-2
allele num: 16502
num of homozygotes: 7

European (Finnish)
type: Population
allele count: 71
allele frequency: 1.076736427054898e-2
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2314
allele frequency: 3.473118602347432e-2
allele num: 66626
num of homozygotes: 59

Other
type: Population
allele count: 27
allele frequency: 2.973568281938326e-2
allele num: 908
num of homozygotes: 2

African
type: Population
allele count: 747
allele frequency: 7.190989603388526e-2
allele num: 10388
num of homozygotes: 33

Latino
type: Population
allele count: 276
allele frequency: 2.4e-2
allele num: 11500
num of homozygotes: 5

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

DP
type: SiteQuality
SIO_000300: 2.126116e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 1.42e1

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

GenotypeQuality
all individuals: 4242
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12669
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3110
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1700
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25636
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3494
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

DP
type: SiteQuality
SIO_000300: 2.029279e6

QD
type: SiteQuality
SIO_000300: 1.377e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.29e-1

GenotypeQuality
all individuals: 4246
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3487
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 25661
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2417
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3113
bin: 7.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.383e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

DP
type: SiteQuality
SIO_000300: 2.030663e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 104
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25688
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2413
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3112
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4247
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3487
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.923816852635629e-4
allele num: 10396
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.003e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.69e-1

FS
type: SiteQuality
SIO_000300: 9.09e-1

MQ
type: SiteQuality
SIO_000300: 6.014e1

DP
type: SiteQuality
SIO_000300: 2.031522e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.663e0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

QD
type: SiteQuality
SIO_000300: 1.51e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

GenotypeQuality
all individuals: 25683
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12675
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 3490
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2412
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3106
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4244
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 7
allele frequency: 4.241910071506484e-4
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.482e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

DP
type: SiteQuality
SIO_000300: 2.032053e6

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.14e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.287e1

FS
type: SiteQuality
SIO_000300: 5.954e0

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 95
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3107
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25654
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 94
allele frequency: 1.410564225690276e-3
allele num: 66640
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.453884377651194e-4
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 8.688097306689834e-4
allele num: 11510
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.923446816695518e-4
allele num: 10398
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.05e0

DP
type: SiteQuality
SIO_000300: 2.037062e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

FS
type: SiteQuality
SIO_000300: 1.129e0

QD
type: SiteQuality
SIO_000300: 1.312e1

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

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1700
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12726
bin: 9.75e1
variant carriers: 69

GenotypeQuality
all individuals: 3106
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 12
allele frequency: 1.818181818181818e-3
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
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allele count: 56
allele frequency: 8.402100525131283e-4
allele num: 66650
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

DP
type: SiteQuality
SIO_000300: 2.03615e6

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

FS
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.89e-1

QD
type: SiteQuality
SIO_000300: 1.476e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2410
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.4027e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

QD
type: SiteQuality
SIO_000300: 1.482e1

DP
type: SiteQuality
SIO_000300: 2.034487e6

MQ
type: SiteQuality
SIO_000300: 5.685e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.202e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 3
allele frequency: 2.884615384615385e-4
allele num: 10400
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.952e0

DP
type: SiteQuality
SIO_000300: 2.034578e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

FS
type: SiteQuality
SIO_000300: 1.158e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 23

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.300627119152639e-4
allele num: 66654
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.035932e6

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.77e-1

FS
type: SiteQuality
SIO_000300: 2.043e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.524e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 4239
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.091e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.035281e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 1.0544e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.101e0

QD
type: SiteQuality
SIO_000300: 1.384e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

DP
type: SiteQuality
SIO_000300: 2.035271e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-1

FS
type: SiteQuality
SIO_000300: 1.0544e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

VQSLOD
type: SiteQuality
SIO_000300: -6.104000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.222e1

FS
type: SiteQuality
SIO_000300: 5.163e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.021e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.159e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.035365e6

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6602
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Other
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East Asian
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allele frequency: 0.0e0
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South Asian
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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Latino
type: Population
allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.171e0

MQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.035298e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.151e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.92e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.001860576778802e-5
allele num: 66646
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.452e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.624e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 2.579e0

DP
type: SiteQuality
SIO_000300: 2.035472e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e0

QD
type: SiteQuality
SIO_000300: 1.105e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

African
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allele count: 5
allele frequency: 4.807692307692308e-4
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.279e1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 2.035517e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.259e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15952
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.023631e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.95e-1

FS
type: SiteQuality
SIO_000300: 1.371e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

QD
type: SiteQuality
SIO_000300: 1.385e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.018e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

VQSLOD
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3496
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GenotypeQuality
all individuals: 24
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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505343971097396e-5
allele num: 66430
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.898e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.541e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.888e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
SIO_000300: 4.849e0

VQSLOD
type: SiteQuality
SIO_000300: -9.452e-1

QD
type: SiteQuality
SIO_000300: 8.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

DP
type: SiteQuality
SIO_000300: 2.020742e6

GenotypeQuality
all individuals: 3048
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507431637975218e-5
allele num: 66338
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.735e0

DP
type: SiteQuality
SIO_000300: 2.014673e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.07e-1

FS
type: SiteQuality
SIO_000300: 2.429e0

QD
type: SiteQuality
SIO_000300: 1.474e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.588e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511258878645912e-5
allele num: 66170
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15058
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.33e-1

FS
type: SiteQuality
SIO_000300: 1.098e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.169e0

MQ
type: SiteQuality
SIO_000300: 6.037e1

QD
type: SiteQuality
SIO_000300: 1.113e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

DP
type: SiteQuality
SIO_000300: 2.003107e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.16e-1

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.691117677733357e-5
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65718
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.179999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.32e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 7.31528895391368e-5
allele num: 13670
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65550
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European (Finnish)
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allele count: 0
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allele num: 6602
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African
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allele count: 2
allele frequency: 1.960015680125441e-4
allele num: 10204
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 874
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.968372e6

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.913e1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

GenotypeQuality
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variant carriers: 0

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

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 7.801529099703542e-5
allele num: 12818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65180
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.335e1

DP
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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ClippingRankSum
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FS
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VQSLOD
type: SiteQuality
SIO_000300: -4.722e-1

GenotypeQuality
all individuals: 3883
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4155
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12713
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2987
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1703
bin: 8.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11790
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.089e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.14e-2

FS
type: SiteQuality
SIO_000300: 2.819e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.376e1

DP
type: SiteQuality
SIO_000300: 1.937772e6

GenotypeQuality
all individuals: 535
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4137
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1733
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2402
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12709
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 565
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1703
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16949
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9840
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557535356052582e-5
allele num: 64204
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e0

VQSLOD
type: SiteQuality
SIO_000300: 9.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.606e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

FS
type: SiteQuality
SIO_000300: 5.107e0

DP
type: SiteQuality
SIO_000300: 1.906011e6

GenotypeQuality
all individuals: 2906
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7595
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1086
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14634
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14990
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.87026709715292e-4
allele num: 6814
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.43001e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.94e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

QD
type: SiteQuality
SIO_000300: 1.107e1

GenotypeQuality
all individuals: 2008
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14634
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7595
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.6711140760507e-5
allele num: 14990
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1274
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.02e0

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 1.107e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.94e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.43001e5

GenotypeQuality
all individuals: 2042
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14942
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3293
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 95
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.986228813559322e-4
allele num: 15104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6944
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1744
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

DP
type: SiteQuality
SIO_000300: 6.46971e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.24e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 1.627e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 765
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3284
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6079
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2040
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1298
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.433897332950961e-4
allele num: 6974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15176
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.13e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.474e0

VQSLOD
type: SiteQuality
SIO_000300: -4.418e-1

FS
type: SiteQuality
SIO_000300: 2.175e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

QD
type: SiteQuality
SIO_000300: 1.62e1

DP
type: SiteQuality
SIO_000300: 6.52382e5

GenotypeQuality
all individuals: 1849
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 914
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2029
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5886
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3291
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1744
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.712e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.09e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 2.355e1

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 6.54991e5

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

GenotypeQuality
all individuals: 673
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15516
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1856
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 5136
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15304
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 7.535795026375283e-4
allele num: 2654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7012
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1754
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1314
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.98e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.259e1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

DP
type: SiteQuality
SIO_000300: 6.65888e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

GenotypeQuality
all individuals: 3355
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 254
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19211
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2692
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.74717e5

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.87e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 7.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 10306
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32153
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.275374551593163e-5
allele num: 18956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2098
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.22e0

QD
type: SiteQuality
SIO_000300: 6.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.25732e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.092e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.39e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 823
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 241
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13422
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4678
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.644250417982538e-5
allele num: 21532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 8.80094e5

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-2

FS
type: SiteQuality
SIO_000300: 3.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.289e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2956
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 316
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 239
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 5.268703898840885e-4
allele num: 3796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5364
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.214e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 6.628e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

DP
type: SiteQuality
SIO_000300: 9.65689e5

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

GenotypeQuality
all individuals: 578
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2220
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1262
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27119
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.339790261171599e-5
allele num: 29942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5862
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3506
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

DP
type: SiteQuality
SIO_000300: 1.029001e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.255e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

GenotypeQuality
all individuals: 1855
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27100
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5760
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4056
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7388
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.09979e6

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 2.632e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-1

QD
type: SiteQuality
SIO_000300: 1.133e1