17-48631818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48631818
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48631818
    reference: chr 17
allele count: 232
allele frequency: 1.927806953400253e-3
allele num: 120344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2790+7G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2227+7G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1977+7G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2109+7G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2080+7G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2172+7G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2157+7G>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 16750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22061
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
hgvs: c.2157+7G>A
num of homozygotes: 2
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

17-48631824-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48631824
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48631824
    reference: chr 17
allele count: 2
allele frequency: 1.66497394315779e-5
allele num: 120122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2109+13G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2790+13G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2227+13G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1977+13G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2157+13G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2172+13G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2080+13G>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/17-48631827-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48631827
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48631827
    reference: chr 17
allele count: 1
allele frequency: 8.328475056217207e-6
allele num: 120070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2790+16A>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2109+16A>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2157+16A>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2227+16A>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2080+16A>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2172+16A>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1977+16A>C
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3656
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

17-48631833-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48631833
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48631833
    reference: chr 17
allele count: 4
allele frequency: 3.33555703802535e-5
allele num: 119920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2080+22G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2109+22G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2157+22G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2790+22G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2227+22G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1977+22G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2172+22G>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

17-48631841-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48631841
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48631841
    reference: chr 17
allele count: 34
allele frequency: 2.844331414803908e-4
allele num: 119536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2172+30C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2790+30C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2109+30C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1977+30C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2080+30C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2157+30C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2227+30C>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9070
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10446
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15912
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

17-48631843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48631843
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48631843
    reference: chr 17
allele count: 1
allele frequency: 8.371983992766606e-6
allele num: 119446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2172+32C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2109+32C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2080+32C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2790+32C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1977+32C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2227+32C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2157+32C>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

17-48631844-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48631844
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48631844
    reference: chr 17
allele count: 291
allele frequency: 2.437512564497755e-3
allele num: 119384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2790+33G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2080+33G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2157+33G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2172+33G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2109+33G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1977+33G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2227+33G>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 5.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 15803
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10229
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 5.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 4.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 4
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

17-48631853-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48631853
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48631853
    reference: chr 17
allele count: 28
allele frequency: 2.350334083201826e-4
allele num: 119132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1977+42G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2157+42G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2227+42G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2790+42G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2080+42G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2172+42G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2109+42G>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15958
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18088
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-48631857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48631857
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48631857
    reference: chr 17
allele count: 29650
allele frequency: 2.495959323860193e-1
allele num: 118792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2790+46G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2109+46G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2227+46G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2157+46G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2080+46G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2172+46G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1977+46G>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15570
  bin: 2.25e1
  variant carriers: 1261
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.75e1
  variant carriers: 704
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 6.25e1
  variant carriers: 1129
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 5.25e1
  variant carriers: 2454
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 3.75e1
  variant carriers: 3355
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 5.75e1
  variant carriers: 1721
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 1.25e1
  variant carriers: 782
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.5e0
  variant carriers: 379
genotype depth: GenotypeDepth
  all individuals: 8928
  bin: 2.75e1
  variant carriers: 1788
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 3.25e1
  variant carriers: 2706
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.75e1
  variant carriers: 291
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.25e1
  variant carriers: 440
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 4.75e1
  variant carriers: 3241
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 1.75e1
  variant carriers: 1052
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 164
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 4.25e1
  variant carriers: 3642
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.75e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 8.25e1
  variant carriers: 195
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 4.75e1
  variant carriers: 124
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.25e1
  variant carriers: 121
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.75e1
  variant carriers: 93
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.25e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 3.25e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 7.75e1
  variant carriers: 170
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 7.5e0
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.5e0
  variant carriers: 14
num of homozygotes: 4696
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

17-48631858-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48631858
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48631858
    reference: chr 17
allele count: 2
allele frequency: 1.683020011107932e-5
allele num: 118834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2790+47T>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2157+47T>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2109+47T>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2080+47T>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2172+47T>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1977+47T>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2227+47T>C
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9536
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3842
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18073
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6814
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-48632558-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632558
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632557
    reference: chr 17
allele count: 1
allele frequency: 8.770083491194836e-6
allele num: 114024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2791-34delT
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2081-34delT
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2173-34delT
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2110-34delT
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2158-34delT
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2228-34delT
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1978-34delT
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5332
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: CT
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/17-48632564-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632564
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632564
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 114848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2228-29C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2791-29C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2173-29C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1978-29C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2158-29C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2081-29C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2110-29C>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27529
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5597
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-48632567-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632567
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632567
    reference: chr 17
allele count: 1
allele frequency: 8.673026886383348e-6
allele num: 115300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2228-26C>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2173-26C>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1978-26C>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2158-26C>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2791-26C>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2081-26C>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2110-26C>G
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

17-48632567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632567
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632567
    reference: chr 17
allele count: 24
allele frequency: 2.081526452732003e-4
allele num: 115300
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2158-26C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2228-26C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2173-26C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1978-26C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2081-26C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2791-26C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2110-26C>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28673
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10371
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-48632568-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632568
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632568
    reference: chr 17
allele count: 9
allele frequency: 7.777528128726732e-5
allele num: 115718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2791-25G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2081-25G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2228-25G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2173-25G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2158-25G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1978-25G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2110-25G>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29437
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5633
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum

17-48632572-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632572
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632572
    reference: chr 17
allele count: 2
allele frequency: 1.710191028337865e-5
allele num: 116946
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2158-21T>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1978-21T>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2791-21T>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2081-21T>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2110-21T>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2228-21T>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2173-21T>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31323
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31006
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-48632577-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632577
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632577
    reference: chr 17
allele count: 1
allele frequency: 8.485650764557135e-6
allele num: 117846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2791-16T>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2110-16T>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1978-16T>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2228-16T>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2173-16T>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2158-16T>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2081-16T>C
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12080
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2889
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-48632586-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632586
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632586
    reference: chr 17
allele count: 4
allele frequency: 3.359707033546675e-5
allele num: 119058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2081-7C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2173-7C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1978-7C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2791-7C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2158-7C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2228-7C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2110-7C>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12875
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: c.2158-7C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

17-48632587-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632587
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632587
    reference: chr 17
allele count: 2
allele frequency: 1.677064466358087e-5
allele num: 119256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2228-6G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2081-6G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2791-6G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2158-6G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2110-6G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1978-6G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2173-6G>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7429
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
hgvs: c.2158-6G>A
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

17-48632593-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632593
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632593
    reference: chr 17
allele count: 8
allele frequency: 6.674676278200507e-5
allele num: 119856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2791A>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2110A>G
  hgvsp: ENSP00000348878.4:p.Ile704Val
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2173A>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2228A>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2081A>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1978A>G
  hgvsp: ENSP00000376935.3:p.Ile660Val
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2158A>G
  hgvsp: ENSP00000006658.6:p.Ile720Val
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33493
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile720Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

17-48632598-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632598
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632598
    reference: chr 17
allele count: 1
allele frequency: 8.317806760713336e-6
allele num: 120224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2178G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1983G>A
  hgvsp: ENST00000393244.3:c.1983G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2086G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2115G>A
  hgvsp: ENST00000356488.4:c.2115G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2163G>A
  hgvsp: ENST00000006658.6:c.2163G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2796G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2233G>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5684
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val721Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

17-48632611-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632611
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632611
    reference: chr 17
allele count: 3
allele frequency: 2.486119167978785e-5
allele num: 120670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1996C>T
  hgvsp: ENSP00000376935.3:p.Arg666Cys
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2191C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2099C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2809C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2176C>T
  hgvsp: ENSP00000006658.6:p.Arg726Cys
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2128C>T
  hgvsp: ENSP00000348878.4:p.Arg710Cys
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2246C>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35508
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5689
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7800
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg726Cys
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

17-48632612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632612
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632612
    reference: chr 17
allele count: 2
allele frequency: 1.657028285472833e-5
allele num: 120698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2100G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2129G>A
  hgvsp: ENSP00000348878.4:p.Arg710His
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2247G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.1997G>A
  hgvsp: ENSP00000376935.3:p.Arg666His
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2810G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2192G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2177G>A
  hgvsp: ENSP00000006658.6:p.Arg726His
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg726His
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

17-48632622-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632622
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632622
    reference: chr 17
allele count: 1
allele frequency: 8.275268532463878e-6
allele num: 120842
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2202G>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2820G>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2007G>C
  hgvsp: ENSP00000376935.3:p.Lys669Asn
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2257G>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2110G>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2187G>C
  hgvsp: ENSP00000006658.6:p.Lys729Asn
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2139G>C
  hgvsp: ENSP00000348878.4:p.Lys713Asn
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5691
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7862
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys729Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-48632628-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632628
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632628
    reference: chr 17
allele count: 4
allele frequency: 3.308628904182107e-5
allele num: 120896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2208C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2116C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2193C>A
  hgvsp: ENST00000006658.6:c.2193C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2145C>A
  hgvsp: ENST00000356488.4:c.2145C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2826C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2013C>A
  hgvsp: ENST00000393244.3:c.2013C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2263C>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7867
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr731Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

17-48632645-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632645
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632645
    reference: chr 17
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2280G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2162G>A
  hgvsp: ENSP00000348878.4:p.Cys721Tyr
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2225G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2030G>A
  hgvsp: ENSP00000376935.3:p.Cys677Tyr
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2133G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2843G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2210G>A
  hgvsp: ENSP00000006658.6:p.Cys737Tyr
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Cys737Tyr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-48632646-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632646
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632646
    reference: chr 17
allele count: 1
allele frequency: 8.264872638312644e-6
allele num: 120994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2844C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2134C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2163C>T
  hgvsp: ENST00000356488.4:c.2163C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2031C>T
  hgvsp: ENST00000393244.3:c.2031C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2211C>T
  hgvsp: ENST00000006658.6:c.2211C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2226C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2281C>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5692
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35691
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Cys737Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

17-48632647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632647
    reference: chr 17
allele count: 1
allele frequency: 8.26405302216419e-6
allele num: 121006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2164G>A
  hgvsp: ENSP00000348878.4:p.Val722Ile
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2212G>A
  hgvsp: ENSP00000006658.6:p.Val738Ile
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2227G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2135G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2032G>A
  hgvsp: ENSP00000376935.3:p.Val678Ile
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2282G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2845G>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5692
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val738Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

17-48632652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632652
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632652
    reference: chr 17
allele count: 1
allele frequency: 8.263097008758882e-6
allele num: 121020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2232C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2140C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2287C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2217C>T
  hgvsp: ENST00000006658.6:c.2217C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2850C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2037C>T
  hgvsp: ENST00000393244.3:c.2037C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2169C>T
  hgvsp: ENST00000356488.4:c.2169C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7887
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His739His
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

17-48632662-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632662
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632662
    reference: chr 17
allele count: 2
allele frequency: 1.652701340340787e-5
allele num: 121014
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2227A>G
  hgvsp: ENSP00000006658.6:p.Ile743Val
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2150A>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2047A>G
  hgvsp: ENSP00000376935.3:p.Ile683Val
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2860A>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2297A>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2179A>G
  hgvsp: ENSP00000348878.4:p.Ile727Val
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2242A>G
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35448
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5693
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ile743Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-48632666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632666
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632666
    reference: chr 17
allele count: 2
allele frequency: 1.652755970580944e-5
allele num: 121010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2246C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2051C>T
  hgvsp: ENSP00000376935.3:p.Pro684Leu
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2231C>T
  hgvsp: ENSP00000006658.6:p.Pro744Leu
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2864C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2301C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2154C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2183C>T
  hgvsp: ENSP00000348878.4:p.Pro728Leu
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5694
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 35427
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro744Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

17-48632670-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632670
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632670
    reference: chr 17
allele count: 1
allele frequency: 8.265009256810368e-6
allele num: 120992
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2235C>T
  hgvsp: ENST00000006658.6:c.2235C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2250C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2055C>T
  hgvsp: ENST00000393244.3:c.2055C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2305C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2187C>T
  hgvsp: ENST00000356488.4:c.2187C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2158C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2868C>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7864
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3523
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn745Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS

http://identifiers.org/exac.variant/17-48632692-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632692
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632692
    reference: chr 17
allele count: 1
allele frequency: 8.269520202437855e-6
allele num: 120926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2308+19C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2253+19C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2238+19C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2058+19C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2190+19C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2161+19C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2871+19C>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31348
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3526
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

17-48632713-G-GCTGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632713
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632717
    reference: chr 17
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: GCTGC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2238+42_2238+45dupTGCC
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2253+42_*2253+45dupTGCC
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2161+42_*2161+45dupTGCC
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2190+42_2190+45dupTGCC
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2308+42_2308+45dupTGCC
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2871+42_2871+45dupTGCC
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2058+42_2058+45dupTGCC
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

17-48632714-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632714
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632714
    reference: chr 17
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2190+41C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2871+41C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2308+41C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2238+41C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2058+41C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2161+41C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2253+41C>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7588
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3631
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5709
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28568
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD

17-48632716-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632716
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632716
    reference: chr 17
allele count: 2
allele frequency: 1.658759911090469e-5
allele num: 120572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2058+43G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2253+43G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2238+43G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2190+43G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2871+43G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2308+43G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2161+43G>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7536
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5711
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

17-48632804-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632804
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632804
    reference: chr 17
allele count: 2
allele frequency: 1.659227795384028e-5
allele num: 120538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2191-49G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2059-49G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2239-49G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2309-49G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2872-49G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2254-49G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2162-49G>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/17-48632814-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632814
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632814
    reference: chr 17
allele count: 360
allele frequency: 2.985619267196338e-3
allele num: 120578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2872-39C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2309-39C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2162-39C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2191-39C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2254-39C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2239-39C>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2059-39C>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12525
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 3.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 26839
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 4.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 9.75e1
  variant carriers: 348
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 10
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-48632815-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632815
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632815
    reference: chr 17
allele count: 3
allele frequency: 2.487397187582913e-5
allele num: 120608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2309-38C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2059-38C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2872-38C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2239-38C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2162-38C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2254-38C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2191-38C>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3525
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8004
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

17-48632817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632817
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632817
    reference: chr 17
allele count: 3
allele frequency: 2.488181139586962e-5
allele num: 120570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2872-36C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2239-36C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2191-36C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2309-36C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2254-36C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2059-36C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2162-36C>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36579
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

17-48632818-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632818
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632818
    reference: chr 17
allele count: 2
allele frequency: 1.657715005636231e-5
allele num: 120648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2254-35G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2191-35G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2162-35G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2309-35G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2872-35G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2239-35G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2059-35G>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7993
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-48632818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632818
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632818
    reference: chr 17
allele count: 3
allele frequency: 2.486572508454347e-5
allele num: 120648
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2239-35G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2162-35G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2059-35G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2872-35G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2309-35G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2254-35G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2191-35G>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

17-48632819-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632819
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632819
    reference: chr 17
allele count: 1
allele frequency: 8.286651861182008e-6
allele num: 120676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2254-34G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2162-34G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2191-34G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2059-34G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2239-34G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2309-34G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2872-34G>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

17-48632831-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632831
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632831
    reference: chr 17
allele count: 1
allele frequency: 8.275131574592036e-6
allele num: 120844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2162-22C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2239-22C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2309-22C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2059-22C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2872-22C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2254-22C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2191-22C>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-48632832-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632832
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632832
    reference: chr 17
allele count: 2
allele frequency: 1.654889370645572e-5
allele num: 120854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2309-21C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2254-21C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2239-21C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2191-21C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2059-21C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2162-21C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2872-21C>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

17-48632834-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632834
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632834
    reference: chr 17
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2309-19T>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2191-19T>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2254-19T>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2162-19T>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2059-19T>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2239-19T>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2872-19T>G
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-48632847-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632847
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632847
    reference: chr 17
allele count: 11
allele frequency: 9.083852213982526e-5
allele num: 121094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2309-6C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2254-6C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2239-6C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2059-6C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2191-6C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2872-6C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2162-6C>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: c.2239-6C>T
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

17-48632862-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632862
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632862
    reference: chr 17
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2318C>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2263C>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2881C>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2068C>G
  hgvsp: ENSP00000376935.3:p.Leu690Val
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2248C>G
  hgvsp: ENSP00000006658.6:p.Leu750Val
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2200C>G
  hgvsp: ENSP00000348878.4:p.Leu734Val
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2171C>G
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8134
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu750Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS

17-48632865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632865
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632865
    reference: chr 17
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2884G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2203G>A
  hgvsp: ENSP00000348878.4:p.Ala735Thr
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2321G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2251G>A
  hgvsp: ENSP00000006658.6:p.Ala751Thr
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2071G>A
  hgvsp: ENSP00000376935.3:p.Ala691Thr
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2174G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2266G>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala751Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

17-48632866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632866
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632866
    reference: chr 17
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2072C>T
  hgvsp: ENSP00000376935.3:p.Ala691Val
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2885C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2252C>T
  hgvsp: ENSP00000006658.6:p.Ala751Val
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2322C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2175C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2267C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2204C>T
  hgvsp: ENSP00000348878.4:p.Ala735Val
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala751Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-48632879-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632879
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632879
    reference: chr 17
allele count: 13
allele frequency: 1.071493332014572e-4
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2280C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2188C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2335C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2898C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2085C>T
  hgvsp: ENST00000393244.3:c.2085C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2217C>T
  hgvsp: ENST00000356488.4:c.2217C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2265C>T
  hgvsp: ENST00000006658.6:c.2265C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12723
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro755Pro
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

17-48632881-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632881
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632881
    reference: chr 17
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2267C>T
  hgvsp: ENSP00000006658.6:p.Ser756Leu
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2337C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2087C>T
  hgvsp: ENSP00000376935.3:p.Ser696Leu
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2190C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2900C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2219C>T
  hgvsp: ENSP00000348878.4:p.Ser740Leu
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2282C>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3476
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser756Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-48632882-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632882
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632882
    reference: chr 17
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2283G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2220G>T
  hgvsp: ENST00000356488.4:c.2220G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2338G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2268G>T
  hgvsp: ENST00000006658.6:c.2268G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2088G>T
  hgvsp: ENST00000393244.3:c.2088G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2191G>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2901G>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser756Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

17-48632884-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632884
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632884
    reference: chr 17
allele count: 106
allele frequency: 8.736647764736911e-4
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2285G>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2270G>C
  hgvsp: ENSP00000006658.6:p.Ser757Thr
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2193G>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2903G>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2340G>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2222G>C
  hgvsp: ENSP00000348878.4:p.Ser741Thr
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2090G>C
  hgvsp: ENSP00000376935.3:p.Ser697Thr
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 10697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 28389
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser757Thr
num of homozygotes: 1
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

17-48632894-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632894
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632894
    reference: chr 17
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2280C>G
  hgvsp: ENST00000006658.6:c.2280C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2913C>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2232C>G
  hgvsp: ENST00000356488.4:c.2232C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2295C>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2203C>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2350C>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2100C>G
  hgvsp: ENST00000393244.3:c.2100C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2433
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser760Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-48632895-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632895
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632895
    reference: chr 17
allele count: 18
allele frequency: 1.483434976100214e-4
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2233C>T
  hgvsp: ENSP00000348878.4:p.Arg745Cys
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2296C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2101C>T
  hgvsp: ENSP00000376935.3:p.Arg701Cys
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2204C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2281C>T
  hgvsp: ENSP00000006658.6:p.Arg761Cys
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2351C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2914C>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12747
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg761Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-48632896-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632896
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632896
    reference: chr 17
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2915G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2282G>A
  hgvsp: ENSP00000006658.6:p.Arg761His
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2205G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2297G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2102G>A
  hgvsp: ENSP00000376935.3:p.Arg701His
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2352G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2234G>A
  hgvsp: ENSP00000348878.4:p.Arg745His
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2428
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg761His
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-48632896-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632896
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632896
    reference: chr 17
allele count: 3
allele frequency: 2.47239162683369e-5
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2205G>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2297G>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2915G>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2282G>C
  hgvsp: ENSP00000006658.6:p.Arg761Pro
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2102G>C
  hgvsp: ENSP00000376935.3:p.Arg701Pro
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2234G>C
  hgvsp: ENSP00000348878.4:p.Arg745Pro
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2352G>C
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39753
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg761Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

17-48632915-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632915
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632915
    reference: chr 17
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2371T>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2121T>A
  hgvsp: ENSP00000376935.3:p.Ser707Arg
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2301T>A
  hgvsp: ENSP00000006658.6:p.Ser767Arg
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2316T>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2253T>A
  hgvsp: ENSP00000348878.4:p.Ser751Arg
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2224T>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2934T>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser767Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

17-48632918-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632918
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632918
    reference: chr 17
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2937C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2304C>T
  hgvsp: ENST00000006658.6:c.2304C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2124C>T
  hgvsp: ENST00000393244.3:c.2124C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2374C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2227C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2256C>T
  hgvsp: ENST00000356488.4:c.2256C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2319C>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr768Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

17-48632922-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632922
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632922
    reference: chr 17
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2128C>T
  hgvsp: ENSP00000376935.3:p.Arg710Ter
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2308C>T
  hgvsp: ENSP00000006658.6:p.Arg770Ter
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2231C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2378C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2323C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2260C>T
  hgvsp: ENSP00000348878.4:p.Arg754Ter
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2941C>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg770Ter
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD

17-48632925-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632925
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632925
    reference: chr 17
allele count: 12
allele frequency: 9.887447884910107e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2326C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2381C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2131C>T
  hgvsp: ENSP00000376935.3:p.Arg711Trp
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2311C>T
  hgvsp: ENSP00000006658.6:p.Arg771Trp
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2234C>T
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2263C>T
  hgvsp: ENSP00000348878.4:p.Arg755Trp
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2944C>T
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg771Trp
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

17-48632928-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632928
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632928
    reference: chr 17
allele count: 3
allele frequency: 2.471739775236463e-5
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2384T>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2266T>C
  hgvsp: ENST00000356488.4:c.2266T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2237T>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2329T>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2134T>C
  hgvsp: ENST00000393244.3:c.2134T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2314T>C
  hgvsp: ENST00000006658.6:c.2314T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2947T>C
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu772Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

17-48632930-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632930
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632930
    reference: chr 17
allele count: 9
allele frequency: 7.415585913682581e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2136G>A
  hgvsp: ENST00000393244.3:c.2136G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2949G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2331G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2239G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2386G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2268G>A
  hgvsp: ENST00000356488.4:c.2268G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2316G>A
  hgvsp: ENST00000006658.6:c.2316G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu772Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

17-48632940-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632940
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632940
    reference: chr 17
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2146G>A
  hgvsp: ENSP00000376935.3:p.Ala716Thr
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2278G>A
  hgvsp: ENSP00000348878.4:p.Ala760Thr
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2959G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2341G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2249G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2326G>A
  hgvsp: ENSP00000006658.6:p.Ala776Thr
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2396G>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39872
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala776Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

17-48632944-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632944
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632944
    reference: chr 17
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2330C>G
  hgvsp: ENSP00000006658.6:p.Thr777Ser
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2253C>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2282C>G
  hgvsp: ENSP00000348878.4:p.Thr761Ser
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2345C>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2400C>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2150C>G
  hgvsp: ENSP00000376935.3:p.Thr717Ser
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2963C>G
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr777Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

17-48632948-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632948
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632948
    reference: chr 17
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2967A>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2154A>G
  hgvsp: ENST00000393244.3:c.2154A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2286A>G
  hgvsp: ENST00000356488.4:c.2286A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2349A>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2257A>G
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2334A>G
  hgvsp: ENST00000006658.6:c.2334A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2404A>G
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala778Ala
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP

17-48632955-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632955
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632955
    reference: chr 17
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2974T>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2264T>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2356T>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2161T>C
  hgvsp: ENSP00000376935.3:p.Cys721Arg
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2411T>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2341T>C
  hgvsp: ENSP00000006658.6:p.Cys781Arg
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2293T>C
  hgvsp: ENSP00000348878.4:p.Cys765Arg
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39882
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys781Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

17-48632958-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632958
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632958
    reference: chr 17
allele count: 6
allele frequency: 4.944131316127757e-5
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2344G>A
  hgvsp: ENSP00000006658.6:p.Glu782Lys
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2359G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2164G>A
  hgvsp: ENSP00000376935.3:p.Glu722Lys
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2296G>A
  hgvsp: ENSP00000348878.4:p.Glu766Lys
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2977G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2267G>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2414G>A
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12740
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu782Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/17-48632961-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632961
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632961
    reference: chr 17
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2417A>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2270A>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2167A>C
  hgvsp: ENSP00000376935.3:p.Asn723His
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2980A>C
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2299A>C
  hgvsp: ENSP00000348878.4:p.Asn767His
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2347A>C
  hgvsp: ENSP00000006658.6:p.Asn783His
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2362A>C
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2416
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn783His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-48632963-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632963
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632963
    reference: chr 17
allele count: 2
allele frequency: 1.648098094798602e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2349T>A
  hgvsp: ENSP00000006658.6:p.Asn783Lys
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2169T>A
  hgvsp: ENSP00000376935.3:p.Asn723Lys
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2982T>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2272T>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2364T>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2419T>A
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2301T>A
  hgvsp: ENSP00000348878.4:p.Asn767Lys
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8167
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn783Lys
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: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

17-48632973-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48632973
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 48632972
    reference: chr 17
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000424215
  ensembl transcript: ENST00000504334
  gene symbol: SPATA20
  hgvsc: ENST00000504334.1:c.*2375delC
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000006658
  ensembl transcript: ENST00000006658
  gene symbol: SPATA20
  hgvsc: ENST00000006658.6:c.2360delC
  hgvsp: ENSP00000006658.6:p.Ser787Ter
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000376935
  ensembl transcript: ENST00000393244
  gene symbol: SPATA20
  hgvsc: ENST00000393244.3:c.2180delC
  hgvsp: ENSP00000376935.3:p.Ser727Ter
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000511937
  gene symbol: SPATA20
  hgvsc: ENST00000511937.1:n.2430delC
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000348878
  ensembl transcript: ENST00000356488
  gene symbol: SPATA20
  hgvsc: ENST00000356488.4:c.2312delC
  hgvsp: ENSP00000348878.4:p.Ser771Ter
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000006282
  ensembl protein: ENSP00000426228
  ensembl transcript: ENST00000503127
  gene symbol: SPATA20
  hgvsc: ENST00000503127.1:c.*2283delC
  variant of: http://identifiers.org/hgnc/26125
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006282
  ensembl transcript: ENST00000503063
  gene symbol: SPATA20
  hgvsc: ENST00000503063.1:n.2993delC
  variant of: http://identifiers.org/hgnc/26125
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28517
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser787Ter
num of homozygotes: 0
reference allele: TC

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3645
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14104
bin: 9.75e1
variant carriers: 230

GenotypeQuality
all individuals: 3013
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4380
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6843
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 3.934684241589612e-4
allele num: 10166
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.212389380530973e-3
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 155
allele frequency: 9.393939393939394e-3
allele num: 16500
num of homozygotes: 2

Latino
type: Population
allele count: 2
allele frequency: 1.73370319001387e-4
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 69
allele frequency: 1.044726402810163e-3
allele num: 66046
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

FS
type: SiteQuality
SIO_000300: 4.114e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

QD
type: SiteQuality
SIO_000300: 1.374e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 1.998992e6

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

GenotypeQuality
all individuals: 330
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2993
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13971
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 278
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2000
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2835
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3659
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4385
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.033796492931254e-5
allele num: 65924
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.321e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.718e0

FS
type: SiteQuality
SIO_000300: 1.644e0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e-1

DP
type: SiteQuality
SIO_000300: 1.983714e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

GenotypeQuality
all individuals: 21590
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
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GenotypeQuality
all individuals: 350
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.045e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.981696e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: -2.65e-1

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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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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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
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: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.988643156007172e-4
allele num: 10038
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65824
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.977e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.285e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.06e-1

DP
type: SiteQuality
SIO_000300: 1.975132e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

GenotypeQuality
all individuals: 218
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 35

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 204
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 18
allele frequency: 2.747252747252747e-3
allele num: 6552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.286515655010518e-4
allele num: 65602
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.539e0

FS
type: SiteQuality
SIO_000300: 1.056e0

QD
type: SiteQuality
SIO_000300: 1.416e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

DP
type: SiteQuality
SIO_000300: 1.961363e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

GenotypeQuality
all individuals: 146
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6511
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 620
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variant carriers: 0

GenotypeQuality
all individuals: 13966
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.958967e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.209e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.371e1

VQSLOD
type: SiteQuality
SIO_000300: 4.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.44e-1

GenotypeQuality
all individuals: 269
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14136
bin: 9.75e1
variant carriers: 286

GenotypeQuality
all individuals: 6456
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variant carriers: 0

Other
type: Population
allele count: 2
allele frequency: 2.237136465324385e-3
allele num: 894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.221001221001221e-4
allele num: 65520
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 272
allele frequency: 2.763104429093864e-2
allele num: 9844
num of homozygotes: 4

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

Latino
type: Population
allele count: 8
allele frequency: 6.958942240779402e-4
allele num: 11496
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.03e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.960445e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

QD
type: SiteQuality
SIO_000300: 1.584e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

GenotypeQuality
all individuals: 1363
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2817
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 640
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GenotypeQuality
all individuals: 6219
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GenotypeQuality
all individuals: 1073
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GenotypeQuality
all individuals: 2879
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variant carriers: 0

GenotypeQuality
all individuals: 536
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variant carriers: 0

GenotypeQuality
all individuals: 1989
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variant carriers: 0

GenotypeQuality
all individuals: 13983
bin: 9.75e1
variant carriers: 28

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

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

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.282393246054081e-4
allele num: 65384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

QD
type: SiteQuality
SIO_000300: 1.501e1

DP
type: SiteQuality
SIO_000300: 1.94837e6

GenotypeQuality
all individuals: 908
bin: 2.25e1
variant carriers: 92

GenotypeQuality
all individuals: 15394
bin: 6.25e1
variant carriers: 136

GenotypeQuality
all individuals: 811
bin: 3.75e1
variant carriers: 103

GenotypeQuality
all individuals: 1991
bin: 7.25e1
variant carriers: 118

GenotypeQuality
all individuals: 124
bin: 1.25e1
variant carriers: 33

GenotypeQuality
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bin: 1.75e1
variant carriers: 60

GenotypeQuality
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bin: 6.75e1
variant carriers: 165

GenotypeQuality
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bin: 9.25e1
variant carriers: 238

GenotypeQuality
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variant carriers: 23368

GenotypeQuality
all individuals: 996
bin: 8.75e1
variant carriers: 148

European (Non-Finnish)
type: Population
allele count: 17035
allele frequency: 2.613130848289615e-1
allele num: 65190
num of homozygotes: 2266

African
type: Population
allele count: 5966
allele frequency: 6.126514684740193e-1
allele num: 9738
num of homozygotes: 1835

Latino
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allele count: 2324
allele frequency: 2.03004891684137e-1
allele num: 11448
num of homozygotes: 243

East Asian
type: Population
allele count: 426
allele frequency: 4.967350746268657e-2
allele num: 8576
num of homozygotes: 10

European (Finnish)
type: Population
allele count: 1453
allele frequency: 2.238828967642527e-1
allele num: 6490
num of homozygotes: 161

Other
type: Population
allele count: 205
allele frequency: 2.308558558558559e-1
allele num: 888
num of homozygotes: 18

South Asian
type: Population
allele count: 2241
allele frequency: 1.361316972421334e-1
allele num: 16462
num of homozygotes: 163

QD
type: SiteQuality
SIO_000300: 1.791e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

DP
type: SiteQuality
SIO_000300: 2.024725e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.175e0

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.96e-2

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1826
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GenotypeQuality
all individuals: 4691
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variant carriers: 0

GenotypeQuality
all individuals: 10880
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65222
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.329373398555789e-4
allele num: 8586
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.942118e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-1

QD
type: SiteQuality
SIO_000300: 1.54e1

VQSLOD
type: SiteQuality
SIO_000300: 7.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeQuality
all individuals: 410
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5583
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4027
bin: 3.75e1
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GenotypeQuality
all individuals: 1731
bin: 4.25e1
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GenotypeQuality
all individuals: 2282
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variant carriers: 0

GenotypeQuality
all individuals: 4115
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variant carriers: 0

GenotypeQuality
all individuals: 4080
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variant carriers: 0

GenotypeQuality
all individuals: 964
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GenotypeQuality
all individuals: 2290
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variant carriers: 0

GenotypeQuality
all individuals: 21799
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5754
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.582829465953338e-5
allele num: 63178
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15406
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.287e0

VQSLOD
type: SiteQuality
SIO_000300: 4.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 1.634e1

MQ
type: SiteQuality
SIO_000300: 5.983e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.65e-1

DP
type: SiteQuality
SIO_000300: 1.538604e6

GenotypeQuality
all individuals: 1887
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2459
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variant carriers: 0

GenotypeQuality
all individuals: 2753
bin: 7.75e1
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GenotypeQuality
all individuals: 1791
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GenotypeQuality
all individuals: 5850
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GenotypeQuality
all individuals: 1033
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GenotypeQuality
all individuals: 26004
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GenotypeQuality
all individuals: 839
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GenotypeQuality
all individuals: 2582
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 4.25e1
variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10928
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5806
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63604
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.459e0

FS
type: SiteQuality
SIO_000300: 1.958e0

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

DP
type: SiteQuality
SIO_000300: 1.590639e6

QD
type: SiteQuality
SIO_000300: 9.82e0

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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5822
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.004823151125402e-4
allele num: 9952
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10990
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

DP
type: SiteQuality
SIO_000300: 1.618666e6

FS
type: SiteQuality
SIO_000300: 4.136e0

QD
type: SiteQuality
SIO_000300: 1.318e1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

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: 24

GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.099181073703367e-5
allele num: 10990
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.004823151125402e-4
allele num: 9952
num of homozygotes: 0

South Asian
type: Population
allele count: 21
allele frequency: 1.35065603293028e-3
allele num: 15548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.565925461948011e-5
allele num: 63860
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.618666e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

FS
type: SiteQuality
SIO_000300: 4.136e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

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 frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.812319538017325e-4
allele num: 8312
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.239470892868285e-5
allele num: 64108
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11030
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.413545407901488e-5
allele num: 15592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5854
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.25e-1

FS
type: SiteQuality
SIO_000300: 4.682e0

QD
type: SiteQuality
SIO_000300: 1.312e1

DP
type: SiteQuality
SIO_000300: 1.635855e6

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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: 921
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64788
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.270163851136797e-4
allele num: 15746
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5936
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

QD
type: SiteQuality
SIO_000300: 1.117e1

FS
type: SiteQuality
SIO_000300: 4.543e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.66763e6

VQSLOD
type: SiteQuality
SIO_000300: 7.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

GenotypeQuality
all individuals: 334
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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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533554165133113e-5
allele num: 65208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11210
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.386e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 2.354e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

DP
type: SiteQuality
SIO_000300: 1.691575e6

QD
type: SiteQuality
SIO_000300: 7.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.106e0

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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bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6116
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.490807540144287e-4
allele num: 8594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.813678829543451e-5
allele num: 11346
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.21e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

FS
type: SiteQuality
SIO_000300: 2.666e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.722561e6

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-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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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6132
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.760873393203029e-4
allele num: 11358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.727889e6

FS
type: SiteQuality
SIO_000300: 2.331e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 1.257e1

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

MQ
type: SiteQuality
SIO_000300: 5.932e1

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
allele num: 16264
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
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allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 7.751937984496124e-4
allele num: 10320
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Latino
type: Population
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 6.820000000000001e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66296
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.406e0

DP
type: SiteQuality
SIO_000300: 1.746948e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.937e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.022e0

GenotypeQuality
all individuals: 424
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 108
bin: 2.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 3505
bin: 7.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
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GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

DP
type: SiteQuality
SIO_000300: 1.755677e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 3.826e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

QD
type: SiteQuality
SIO_000300: 1.316e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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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
all individuals: 5690
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variant carriers: 2

GenotypeQuality
all individuals: 3157
bin: 7.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 1.756873e6

FS
type: SiteQuality
SIO_000300: 5.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: -3.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.95e-1

QD
type: SiteQuality
SIO_000300: 1.398e1

GenotypeQuality
all individuals: 57
bin: 5.25e1
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: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 886
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variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: 2.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.18e-1

QD
type: SiteQuality
SIO_000300: 1.043e1

DP
type: SiteQuality
SIO_000300: 1.759547e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 8.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 3.25e1
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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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 4
allele frequency: 3.847633705271258e-4
allele num: 10396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.909e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.051e1

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.899e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

DP
type: SiteQuality
SIO_000300: 1.760875e6

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 5691
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 30
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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: 7883
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GenotypeQuality
all individuals: 2229
bin: 8.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.174e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.072e1

DP
type: SiteQuality
SIO_000300: 1.762208e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.046e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

MQ
type: SiteQuality
SIO_000300: 5.822e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 2228
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 42
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 7879
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GenotypeQuality
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GenotypeQuality
all individuals: 44
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GenotypeQuality
all individuals: 991
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GenotypeQuality
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GenotypeQuality
all individuals: 3533
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GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.335e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

QD
type: SiteQuality
SIO_000300: 8.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.61e-1

FS
type: SiteQuality
SIO_000300: 9.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 1.762453e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.23e-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

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: 6418
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.219e1

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e-1

DP
type: SiteQuality
SIO_000300: 1.76262e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.061e0

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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bin: 4.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.762663e6

QD
type: SiteQuality
SIO_000300: 1.294e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.09e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.717e0

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
all individuals: 62
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

South Asian
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allele count: 0
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allele num: 16502
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.18e-1

DP
type: SiteQuality
SIO_000300: 1.761636e6

QD
type: SiteQuality
SIO_000300: 1.202e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
all individuals: 130
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variant carriers: 0

GenotypeQuality
all individuals: 117
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GenotypeQuality
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GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

South Asian
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allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66592
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: 6424
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.553e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

DP
type: SiteQuality
SIO_000300: 1.761532e6

QD
type: SiteQuality
SIO_000300: 1.512e1

VQSLOD
type: SiteQuality
SIO_000300: -9.732e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.901e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

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

Latino
type: Population
allele count: 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: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.521e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 1.760752e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.066e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

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

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

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

FS
type: SiteQuality
SIO_000300: 5.076e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.364e0

DP
type: SiteQuality
SIO_000300: 1.754524e6

VQSLOD
type: SiteQuality
SIO_000300: 4.4e-2

QD
type: SiteQuality
SIO_000300: 9.56e0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505570611261668e-5
allele num: 66420
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.527e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

DP
type: SiteQuality
SIO_000300: 1.750646e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.707e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.383e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.31e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66420
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.475e0

DP
type: SiteQuality
SIO_000300: 1.750784e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: -1.029e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.528e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

FS
type: SiteQuality
SIO_000300: 4.047e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

QD
type: SiteQuality
SIO_000300: 1.549e1

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
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variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.217285453438831e-4
allele num: 16430
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.171e1

FS
type: SiteQuality
SIO_000300: 8.61e-1

DP
type: SiteQuality
SIO_000300: 1.752588e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.291e0

VQSLOD
type: SiteQuality
SIO_000300: 7.19e-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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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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South Asian
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allele count: 2
allele frequency: 1.25203455615375e-4
allele num: 15974
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East Asian
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.21e-1

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

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

MQRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.772787e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009328919650918e-5
allele num: 66460
num of homozygotes: 0

Latino
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allele frequency: 1.037165082108902e-3
allele num: 11570
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8648
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 346
allele frequency: 3.326923076923077e-2
allele num: 10400
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South Asian
type: Population
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allele frequency: 0.0e0
allele num: 15992
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.679999999999999e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
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allele num: 10398
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Latino
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European (Finnish)
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.512771142332802e-5
allele num: 66478
num of homozygotes: 0

South Asian
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.97e-1

BaseQRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.807e1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.14e-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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variant carriers: 0

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

African
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South Asian
type: Population
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Latino
type: Population
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.513450081242101e-5
allele num: 66468
num of homozygotes: 0

Other
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 4.51e0

QD
type: SiteQuality
SIO_000300: 1.188e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

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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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 8.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.313208420078649e-4
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 16036
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

QD
type: SiteQuality
SIO_000300: 1.185e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 8.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 1.769792e6

FS
type: SiteQuality
SIO_000300: 1.384e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

South Asian
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allele frequency: 6.235969069593415e-5
allele num: 16036
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 3.00815209216978e-5
allele num: 66486
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 1.384e0

DP
type: SiteQuality
SIO_000300: 1.769792e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: 8.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e0

QD
type: SiteQuality
SIO_000300: 1.185e1

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

East Asian
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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: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16062
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.05e-1

MQ
type: SiteQuality
SIO_000300: 5.912e1

DP
type: SiteQuality
SIO_000300: 1.770049e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.714e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.575e-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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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16184
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
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

DP
type: SiteQuality
SIO_000300: 1.779168e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.432e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.03e0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006253006253006e-5
allele num: 66528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.75e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.032e0

DP
type: SiteQuality
SIO_000300: 1.78009e6

MQ
type: SiteQuality
SIO_000300: 5.921e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.604e0

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
all individuals: 2010
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502584445245823e-5
allele num: 66552
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.75e-1

FS
type: SiteQuality
SIO_000300: 1.006e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

DP
type: SiteQuality
SIO_000300: 1.781101e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.95e-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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variant carriers: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 902
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 11
allele frequency: 1.651453278885419e-4
allele num: 66608
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.852e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.789641e6

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.932e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.985e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.72e0

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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
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East Asian
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South Asian
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Other
type: Population
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European (Non-Finnish)
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allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 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: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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East Asian
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Other
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FS
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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MQ
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DP
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.502542764678687e-3
allele num: 8652
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
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FS
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VQSLOD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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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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variant carriers: 0

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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European (Non-Finnish)
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allele frequency: 1.499880009599232e-5
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Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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Other
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QD
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VQSLOD
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MQ
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MQRankSum
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FS
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ClippingRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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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Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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African
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East Asian
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Other
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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variant carriers: 105

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

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

African
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allele frequency: 8.076923076923077e-3
allele num: 10400
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European (Non-Finnish)
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allele frequency: 1.650016500165002e-4
allele num: 66666
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East Asian
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 9.500777336327518e-4
allele num: 11578
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Other
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MQRankSum
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SIO_000300: 4.21e-1

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

Latino
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allele frequency: 8.638562543192812e-5
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European (Non-Finnish)
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allele frequency: 2.099580083983203e-4
allele num: 66680
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African
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South Asian
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European (Finnish)
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Other
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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Latino
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South Asian
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Other
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European (Finnish)
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East Asian
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European (Non-Finnish)
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 66680
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South Asian
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African
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Latino
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Other
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European (Finnish)
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East Asian
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQ
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QD
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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African
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FS
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InbreedingCoeff
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ClippingRankSum
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MQ
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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DP
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SIO_000300: 1.792624e6

QD
type: SiteQuality
SIO_000300: 1.169e1

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: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

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

ClippingRankSum
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SIO_000300: -1.219e0

InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.22e1

ReadPosRankSum
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SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 1.792664e6

BaseQRankSum
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SIO_000300: -3.565e0

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

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

African
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allele frequency: 0.0e0
allele num: 10404
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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FS
type: SiteQuality
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DP
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 8
allele frequency: 1.199328376109379e-4
allele num: 66704
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.757e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.95e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.79289e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.25e-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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variant carriers: 3

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: 11574
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

FS
type: SiteQuality
SIO_000300: 3.913e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.98e-1

QD
type: SiteQuality
SIO_000300: 1.357e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.792336e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: -8.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 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 count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 9
allele frequency: 5.450581395348837e-4
allele num: 16512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.246e0

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.13e-1

BaseQRankSum
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SIO_000300: -2.085e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.313e1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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

FS
type: SiteQuality
SIO_000300: 2.58e0

VQSLOD
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.03e0

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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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
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allele count: 0
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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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 906
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

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: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
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DP
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MQ
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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 frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

South Asian
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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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
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VQSLOD
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QD
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.995232526760817e-5
allele num: 66702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.127e1

FS
type: SiteQuality
SIO_000300: 1.772e0

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.229e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 1.791784e6

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8173
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3363
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1985
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2927
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.791481e6

VQSLOD
type: SiteQuality
SIO_000300: -3.498e0

FS
type: SiteQuality
SIO_000300: 1.104e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 6.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.71e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

GenotypeQuality
all individuals: 2417
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2926
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3362
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39865
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 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: 16512
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998500749625187e-5
allele num: 66700
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.252e0

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.428e-1

DP
type: SiteQuality
SIO_000300: 1.791366e6

QD
type: SiteQuality
SIO_000300: 1.2e1