4-1194556-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194556
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194557
    reference: chr 4
allele count: 2
allele frequency: 1.875117194824677e-4
allele num: 10666
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7807dupG
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+500dupG
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+7111dupG
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+504dupG
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+7111dupG
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+500dupG
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7807dupG
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-722dupG
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3637dupG
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

4-1194567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194567
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194567
    reference: chr 4
allele count: 1
allele frequency: 8.399126490844952e-5
allele num: 11906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+7101G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+490G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3647G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7797G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-732G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+494G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+490G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7797G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+7101G>A
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

4-1194570-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194570
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194570
    reference: chr 4
allele count: 128
allele frequency: 1.048492791612058e-2
allele num: 12208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+487A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7794A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+7098A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+487A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+7098A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7794A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3650A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+491A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-735A>G
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

4-1194576-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194576
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194575
    reference: chr 4
allele count: 2
allele frequency: 1.600768368817032e-4
allele num: 12494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+480delA
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+480delA
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3657delA
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+7091delA
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+484delA
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-742delA
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+7091delA
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7787delA
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7787delA
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3238
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: CT
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/4-1194580-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194580
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194580
    reference: chr 4
allele count: 63
allele frequency: 4.956726986624705e-3
allele num: 12710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7784G>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+477G>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+481G>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+477G>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7784G>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+7088G>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+7088G>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-745G>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3660G>T
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

4-1194586-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194586
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194586
    reference: chr 4
allele count: 4670
allele frequency: 3.567608861726509e-1
allele num: 13090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+7082A>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+471A>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7778A>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+475A>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+471A>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-751A>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3666A>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+7082A>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7778A>T
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 220
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 310
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 2.5e0
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 532
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 397
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 522
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 2.75e1
  variant carriers: 233
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.25e1
  variant carriers: 340
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 470
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.5e0
  variant carriers: 248
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 2.25e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 6.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.25e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 28
num of homozygotes: 884
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum

4-1194594-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194594
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194594
    reference: chr 4
allele count: 3546
allele frequency: 2.672998643147897e-1
allele num: 13266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-759T>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+467T>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+463T>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+463T>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3674T>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7770T>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+7074T>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7770T>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+7074T>A
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 283
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 344
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 3.25e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 2.75e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 2.5e0
  variant carriers: 269
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 329
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.5e0
  variant carriers: 427
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.75e1
  variant carriers: 312
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 2.25e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 381
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 3867
  bin: 9.75e1
  variant carriers: 2924
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.25e1
  variant carriers: 13
num of homozygotes: 499
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

4-1194615-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194615
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194615
    reference: chr 4
allele count: 7
allele frequency: 5.363162733680661e-4
allele num: 13052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+7053C>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7749C>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+442C>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+7053C>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+446C>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3695C>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-780C>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+442C>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7749C>A
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

4-1194623-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194623
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194623
    reference: chr 4
allele count: 1
allele frequency: 7.658140603461479e-5
allele num: 13058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+434C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+7045C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7741C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3703C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+7045C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+434C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7741C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+438C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-788C>T
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

4-1194630-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194630
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194630
    reference: chr 4
allele count: 5004
allele frequency: 3.738233975795607e-1
allele num: 13386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+7038A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3710A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+427A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7734A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7734A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+427A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+7038A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+431A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-795A>G
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 237
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 2.25e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 453
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.25e1
  variant carriers: 247
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 408
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 274
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 307
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 403
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 2.5e0
  variant carriers: 281
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 7.5e0
  variant carriers: 385
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 380
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 448
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 2.75e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 47
num of homozygotes: 958
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

4-1194649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194649
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194649
    reference: chr 4
allele count: 2
allele frequency: 1.495215311004785e-4
allele num: 13376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+408G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+408G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+7019G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3729G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7715G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+7019G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7715G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-814G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+412G>A
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

4-1194688-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194688
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194688
    reference: chr 4
allele count: 4
allele frequency: 2.954646181119811e-4
allele num: 13538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-853G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+369G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6980G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7676G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6980G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+373G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3768G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7676G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+369G>A
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

4-1194689-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194689
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194689
    reference: chr 4
allele count: 1
allele frequency: 7.37354372511429e-5
allele num: 13562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+368C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+368C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3769C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+372C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6979C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-854C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7675C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7675C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6979C>T
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

4-1194709-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194709
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194709
    reference: chr 4
allele count: 2
allele frequency: 1.463057790782736e-4
allele num: 13670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6959C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-874C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+348C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+352C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7655C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7655C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+348C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6959C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3789C>T
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

4-1194713-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194713
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194713
    reference: chr 4
allele count: 1
allele frequency: 7.305669199298655e-5
allele num: 13688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6955C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+344C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3793C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7651C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6955C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-878C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7651C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+348C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+344C>T
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
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: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

4-1194729-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194729
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194729
    reference: chr 4
allele count: 3
allele frequency: 2.176436448055717e-4
allele num: 13784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7635G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3809G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-894G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6939G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+328G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+328G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7635G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6939G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+332G>A
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-1194771-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194771
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194771
    reference: chr 4
allele count: 2
allele frequency: 1.429592566118656e-4
allele num: 13990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7593G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3851G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6897G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7593G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-936G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+290G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6897G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+286G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+286G>A
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

4-1194772-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194772
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194772
    reference: chr 4
allele count: 32
allele frequency: 2.285714285714286e-3
allele num: 14000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+285C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7592C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+289C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-937C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3852C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6896C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7592C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6896C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+285C>T
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

4-1194787-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194787
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194787
    reference: chr 4
allele count: 1
allele frequency: 7.15307582260372e-5
allele num: 13980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+274G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7577G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6881G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7577G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+270G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3867G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+270G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-952G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6881G>A
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5106
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-1194788-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194788
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194788
    reference: chr 4
allele count: 15
allele frequency: 1.07234772662282e-3
allele num: 13988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3868C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+269C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-953C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6880C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7576C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7576C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6880C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+269C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+273C>T
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS

4-1194814-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194814
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194814
    reference: chr 4
allele count: 1
allele frequency: 7.221259387637204e-5
allele num: 13848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3894A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+243A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7550A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6854A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+243A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7550A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+247A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6854A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-979A>G
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4038
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

4-1194828-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194828
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194828
    reference: chr 4
allele count: 7
allele frequency: 5.125951962507323e-4
allele num: 13656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+229A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7536A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6840A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6840A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+229A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+233A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-993A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7536A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3908A>G
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP

4-1194840-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194840
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194840
    reference: chr 4
allele count: 1
allele frequency: 7.418397626112759e-5
allele num: 13480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7524G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+217G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7524G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6828G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+217G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6828G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3920G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-1005G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+221G>A
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

4-1194868-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194868
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194868
    reference: chr 4
allele count: 1
allele frequency: 7.64525993883792e-5
allele num: 13080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6800C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+189C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3948C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6800C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-1033C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7496C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+189C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7496C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+193C>T
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

4-1194872-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194872
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194872
    reference: chr 4
allele count: 1
allele frequency: 7.686395080707149e-5
allele num: 13010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6796C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7492C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+185C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6796C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-1037C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7492C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3952C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+185C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+189C>T
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

4-1194877-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194877
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194877
    reference: chr 4
allele count: 1
allele frequency: 7.674597083653108e-5
allele num: 13030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+180A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+180A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7487A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3957A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+184A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6791A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7487A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6791A>G
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-1042A>G
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3847
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS

4-1194880-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194880
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194879
    reference: chr 4
allele count: 3
allele frequency: 2.304501459517591e-4
allele num: 13018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+176delA
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3961delA
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6787delA
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6787delA
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+180delA
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-1046delA
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+176delA
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7483delA
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7483delA
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AT
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

4-1194895-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194895
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194895
    reference: chr 4
allele count: 2
allele frequency: 1.556178026766262e-4
allele num: 12852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+162T>C
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7469T>C
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6773T>C
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-1060T>C
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-3975T>C
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6773T>C
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7469T>C
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+166T>C
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+162T>C
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5040
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

4-1194923-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194923
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194923
    reference: chr 4
allele count: 2
allele frequency: 1.60926939169617e-4
allele num: 12428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+134G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+134G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6745G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6745G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-1088G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7441G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7441G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-4003G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+138G>A
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

4-1194929-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194929
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194929
    reference: chr 4
allele count: 1
allele frequency: 8.090614886731392e-5
allele num: 12360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-4009G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7435G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6739G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7435G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+128G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-1094G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+128G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+132G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6739G>A
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

4-1194955-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194955
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194955
    reference: chr 4
allele count: 2
allele frequency: 1.726221301570861e-4
allele num: 11586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7409C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7409C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-1120C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+106C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+102C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-4035C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+102C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6713C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6713C>T
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

4-1194955-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194955
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194955
    reference: chr 4
allele count: 1
allele frequency: 8.631106507854307e-5
allele num: 11586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+102C>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7409C>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6713C>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-4035C>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-1120C>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6713C>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7409C>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+102C>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+106C>A
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

4-1194977-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194977
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194976
    reference: chr 4
allele count: 1
allele frequency: 1.122586439155815e-4
allele num: 8908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7386delG
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-4058delG
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-1143delG
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6690delG
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6690delG
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+79delG
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+79delG
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+83delG
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7386delG
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: TC
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

4-1194983-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194983
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194983
    reference: chr 4
allele count: 5
allele frequency: 6.034274680183442e-4
allele num: 8286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+78G>C
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-4063G>C
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+74G>C
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7381G>C
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7381G>C
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+74G>C
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6685G>C
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6685G>C
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-1148G>C
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

4-1194983-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194983
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194983
    reference: chr 4
allele count: 19
allele frequency: 2.293024378469708e-3
allele num: 8286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-1148G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7381G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7381G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6685G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+78G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6685G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-4063G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+74G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+74G>A
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

4-1194984-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1194984
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1194984
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 8026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7380C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6684C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+73C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6684C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+77C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+73C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-1149C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-4064C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7380C>T
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

4-1195004-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1195004
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1195002
    reference: chr 4
allele count: 1
allele frequency: 1.666666666666667e-4
allele num: 6000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6662_488+6663delCT
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+51_716+52delCT
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+55_85+56delCT
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7358_-239+7359delCT
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6662_-234+6663delCT
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-4086_254-4085delCT
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-1171_114-1170delCT
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7358_263+7359delCT
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+51_-234+52delCT
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: AAG
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

4-1195031-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1195031
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1195031
    reference: chr 4
allele count: 8
allele frequency: 2.520478890989288e-3
allele num: 3174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+26T>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+26T>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6637T>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6637T>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-1196T>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7333T>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7333T>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-4111T>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+30T>A
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.25e1
  variant carriers: 2
num of homozygotes: 1
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

4-1195049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1195049
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1195049
    reference: chr 4
allele count: 2
allele frequency: 1.081081081081081e-3
allele num: 1850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-234+8G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.716+8G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-1214G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7315G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-4129G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6619G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6619G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7315G>A
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.85+12G>A
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
hgvs: n.716+8G>A
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

4-1195073-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1195073
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1195073
    reference: chr 4
allele count: 1
allele frequency: 9.380863039399625e-4
allele num: 1066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6595C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-250C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7291C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-1238C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.73C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.700C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6595C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-4153C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7291C>T
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

4-1195077-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1195077
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1195077
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7287C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.696C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.69C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-254C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-1242C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6591C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-4157C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7287C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6591C>T
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7802
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

4-1195088-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1195088
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1195088
    reference: chr 4
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000515553
  gene symbol: SPON2
  hgvsc: ENST00000515553.1:n.114-1253C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421379
  ensembl transcript: ENST00000509233
  gene symbol: SPON2
  hgvsc: ENST00000509233.1:c.-234+6580C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000506266
  gene symbol: SPON2
  hgvsc: ENST00000506266.1:n.263+7276C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000400762
  gene symbol: SPON2
  hgvsc: ENST00000400762.3:n.685C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000502657
  gene symbol: SPON2
  hgvsc: ENST00000502657.1:n.254-4168C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000423414
  ensembl transcript: ENST00000511679
  gene symbol: SPON2
  hgvsc: ENST00000511679.1:c.-239+7276C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000505653
  gene symbol: SPON2
  hgvsc: ENST00000505653.1:n.58C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159674
  ensembl transcript: ENST00000504871
  gene symbol: SPON2
  hgvsc: ENST00000504871.1:n.488+6580C>T
  variant of: http://identifiers.org/hgnc/11253
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000159674
  ensembl protein: ENSP00000421858
  ensembl transcript: ENST00000511672
  gene symbol: SPON2
  hgvsc: ENST00000511672.1:c.-265C>T
  variant of: http://identifiers.org/hgnc/11253
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8035
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6317
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

4-1205977-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1205977
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1205977
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 6844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.373C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.*51C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.*51C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.*51C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.*51C>T
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9232
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39722
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26900
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5416
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4461
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9323
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ

4-1205992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1205992
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1205992
    reference: chr 4
allele count: 7
allele frequency: 1.015670342426001e-3
allele num: 6892
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.*36G>A
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.*36G>A
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.*36G>A
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.*36G>A
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.358G>A
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39448
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4529
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32251
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4523
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

4-1205994-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1205994
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1205994
    reference: chr 4
allele count: 3
allele frequency: 4.357931435212086e-4
allele num: 6884
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.*34C>G
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.*34C>G
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.*34C>G
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.*34C>G
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.356C>G
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10954
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 39248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4318
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32458
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4324
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6991
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-1205996-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1205996
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1205996
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 6974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.*32G>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.*32G>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.*32G>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.354G>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.*32G>T
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11417
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39032
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3798
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32927
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/4-1206001-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206001
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206001
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 7120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.*27G>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.*27G>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.349G>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.*27G>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.*27G>T
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12618
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8792
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32916
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3549
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

4-1206005-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206005
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206005
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 7502
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.*23C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.345C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.*23C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.*23C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.*23C>T
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36164
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15895
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 12677
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 477
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
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genotype quality: GenotypeQuality
  all individuals: 530
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genotype quality: GenotypeQuality
  all individuals: 32547
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2000
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

4-1206012-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206012
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206012
    reference: chr 4
allele count: 2
allele frequency: 2.414292612264606e-4
allele num: 8284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.338C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.*16C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.*16C>T
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33130
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
  all individuals: 36
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genotype quality: GenotypeQuality
  all individuals: 2153
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genotype quality: GenotypeQuality
  all individuals: 511
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 348
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 35
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 105
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genotype quality: GenotypeQuality
  all individuals: 1563
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genotype quality: GenotypeQuality
  all individuals: 57
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genotype quality: GenotypeQuality
  all individuals: 1765
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genotype quality: GenotypeQuality
  all individuals: 1774
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genotype quality: GenotypeQuality
  all individuals: 601
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum

4-1206025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206025
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206025
    reference: chr 4
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.*3C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.*3C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.*3C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.325C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.*3C>T
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26212
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

4-1206033-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206033
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206033
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 12486
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.548T>C
  hgvsp: ENST00000503594.1:c.548T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1285T>C
  hgvsp: ENST00000382952.3:c.1285T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.857T>C
  hgvsp: ENST00000504092.1:c.857T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1318T>C
  hgvsp: ENST00000290921.6:c.1318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.317T>C
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30304
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21917
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21067
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27544
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu440Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

4-1206041-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206041
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206041
    reference: chr 4
allele count: 2
allele frequency: 1.399580125962211e-4
allele num: 14290
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1310G>A
  hgvsp: ENSP00000290921.6:p.Ser437Asn
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.540G>A
  hgvsp: ENSP00000422148.1:p.Ser181Asn
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.849G>A
  hgvsp: ENSP00000422364.1:p.Ser284Asn
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1277G>A
  hgvsp: ENSP00000372411.3:p.Ser426Asn
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.309G>A
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32254
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18491
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ser437Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

4-1206045-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206045
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206045
    reference: chr 4
allele count: 2
allele frequency: 1.30684788290643e-4
allele num: 15304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1273G>A
  hgvsp: ENSP00000372411.3:p.Ala425Thr
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.305G>A
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.536G>A
  hgvsp: ENSP00000422148.1:p.Ala180Thr
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.845G>A
  hgvsp: ENSP00000422364.1:p.Ala283Thr
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1306G>A
  hgvsp: ENSP00000290921.6:p.Ala436Thr
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18036
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30045
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala436Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

4-1206046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206046
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206046
    reference: chr 4
allele count: 1
allele frequency: 6.247657128576784e-5
allele num: 16006
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1305C>T
  hgvsp: ENST00000290921.6:c.1305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.844C>T
  hgvsp: ENST00000504092.1:c.844C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.535C>T
  hgvsp: ENST00000503594.1:c.535C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1272C>T
  hgvsp: ENST00000382952.3:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.304C>T
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16881
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His435His
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-1206058-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206058
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206058
    reference: chr 4
allele count: 1
allele frequency: 5.201831044527674e-5
allele num: 19224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.292G>C
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.832G>C
  hgvsp: ENST00000504092.1:c.832G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1260G>C
  hgvsp: ENST00000382952.3:c.1260G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1293G>C
  hgvsp: ENST00000290921.6:c.1293G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.523G>C
  hgvsp: ENST00000503594.1:c.523G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34683
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14625
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2403
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4338
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala431Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

4-1206058-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206058
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206058
    reference: chr 4
allele count: 49
allele frequency: 2.54889721181856e-3
allele num: 19224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1260G>A
  hgvsp: ENST00000382952.3:c.1260G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.523G>A
  hgvsp: ENST00000503594.1:c.523G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1293G>A
  hgvsp: ENST00000290921.6:c.1293G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.832G>A
  hgvsp: ENST00000504092.1:c.832G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.292G>A
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14625
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34683
  bin: 7.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 32258
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4338
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 14153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala431Ala
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

4-1206059-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206059
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206059
    reference: chr 4
allele count: 8
allele frequency: 4.070418235473695e-4
allele num: 19654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1259C>T
  hgvsp: ENSP00000372411.3:p.Ala420Val
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.831C>T
  hgvsp: ENSP00000422364.1:p.Ala278Val
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.522C>T
  hgvsp: ENSP00000422148.1:p.Ala175Val
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.291C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1292C>T
  hgvsp: ENSP00000290921.6:p.Ala431Val
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34778
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala431Val
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

4-1206064-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206064
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206064
    reference: chr 4
allele count: 3
allele frequency: 1.392240579172081e-4
allele num: 21548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.286C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1287C>T
  hgvsp: ENST00000290921.6:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000382950
  gene symbol: CTBP1
  hgvsc: ENST00000382950.4:n.546C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.826C>T
  hgvsp: ENST00000504092.1:c.826C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.517C>T
  hgvsp: ENST00000503594.1:c.517C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1254C>T
  hgvsp: ENST00000382952.3:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4262
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12835
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro429Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

4-1206072-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206072
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206072
    reference: chr 4
allele count: 1
allele frequency: 4.179204279505182e-5
allele num: 23928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.278G>A
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1246G>A
  hgvsp: ENSP00000372411.3:p.Val416Ile
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1279G>A
  hgvsp: ENSP00000290921.6:p.Val427Ile
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.818G>A
  hgvsp: ENSP00000422364.1:p.Val274Ile
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.509G>A
  hgvsp: ENSP00000422148.1:p.Val171Ile
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000382950
  gene symbol: CTBP1
  hgvsc: ENST00000382950.4:n.538G>A
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11937
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4752
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11760
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val427Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD

4-1206073-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206073
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206073
    reference: chr 4
allele count: 1
allele frequency: 4.081632653061225e-5
allele num: 24500
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1278C>T
  hgvsp: ENST00000290921.6:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.817C>T
  hgvsp: ENST00000504092.1:c.817C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000382950
  gene symbol: CTBP1
  hgvsc: ENST00000382950.4:n.537C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.277C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1245C>T
  hgvsp: ENST00000382952.3:c.1245C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.508C>T
  hgvsp: ENST00000503594.1:c.508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34967
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11599
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33079
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr426Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

4-1206073-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206073
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206073
    reference: chr 4
allele count: 1
allele frequency: 4.081632653061225e-5
allele num: 24500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.817C>G
  hgvsp: ENST00000504092.1:c.817C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.277C>G
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1278C>G
  hgvsp: ENST00000290921.6:c.1278C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1245C>G
  hgvsp: ENST00000382952.3:c.1245C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.508C>G
  hgvsp: ENST00000503594.1:c.508C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000382950
  gene symbol: CTBP1
  hgvsc: ENST00000382950.4:n.537C>G
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11599
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr426Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

4-1206076-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206076
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206076
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 25628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1242A>G
  hgvsp: ENST00000382952.3:c.1242A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.274A>G
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.814A>G
  hgvsp: ENST00000504092.1:c.814A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1275A>G
  hgvsp: ENST00000290921.6:c.1275A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.505A>G
  hgvsp: ENST00000503594.1:c.505A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000382950
  gene symbol: CTBP1
  hgvsc: ENST00000382950.4:n.534A>G
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34999
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34077
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln425Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

4-1206083-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206083
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206083
    reference: chr 4
allele count: 1
allele frequency: 3.682969946965233e-5
allele num: 27152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000382950
  gene symbol: CTBP1
  hgvsc: ENST00000382950.4:n.527C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1268C>T
  hgvsp: ENSP00000290921.6:p.Pro423Leu
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.807C>T
  hgvsp: ENSP00000422364.1:p.Pro270Leu
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1235C>T
  hgvsp: ENSP00000372411.3:p.Pro412Leu
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.267C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.498C>T
  hgvsp: ENSP00000422148.1:p.Pro167Leu
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro423Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

4-1206089-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206089
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206089
    reference: chr 4
allele count: 29
allele frequency: 1.072564538797248e-3
allele num: 27038
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1262C>T
  hgvsp: ENSP00000290921.6:p.Pro421Leu
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000382950
  gene symbol: CTBP1
  hgvsc: ENST00000382950.4:n.521C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.801C>T
  hgvsp: ENSP00000422364.1:p.Pro268Leu
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1229C>T
  hgvsp: ENSP00000372411.3:p.Pro410Leu
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.261C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.492C>T
  hgvsp: ENSP00000422148.1:p.Pro165Leu
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33887
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 1.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3401
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11220
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30854
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.75e1
  variant carriers: 2
hgvs: p.Pro421Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-1206100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206100
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206100
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 28102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.790G>A
  hgvsp: ENST00000504092.1:c.790G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000382950
  gene symbol: CTBP1
  hgvsc: ENST00000382950.4:n.510G>A
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.481G>A
  hgvsp: ENST00000503594.1:c.481G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1251G>A
  hgvsp: ENST00000290921.6:c.1251G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1218G>A
  hgvsp: ENST00000382952.3:c.1218G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.250G>A
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33345
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11010
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11083
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30939
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro417Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

4-1206104-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206104
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206104
    reference: chr 4
allele count: 16
allele frequency: 5.460378131185585e-4
allele num: 29302
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1247A>T
  hgvsp: ENSP00000290921.6:p.His416Leu
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.786A>T
  hgvsp: ENSP00000422364.1:p.His263Leu
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.477A>T
  hgvsp: ENSP00000422148.1:p.His160Leu
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000382950
  gene symbol: CTBP1
  hgvsc: ENST00000382950.4:n.506A>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.246A>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1214A>T
  hgvsp: ENSP00000372411.3:p.His405Leu
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7662
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33174
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10748
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10734
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31325
  bin: 2.25e1
  variant carriers: 2
hgvs: p.His416Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/4-1206109-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206109
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206109
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 30442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.472G>T
  hgvsp: ENST00000503594.1:c.472G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.241G>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1242G>T
  hgvsp: ENST00000290921.6:c.1242G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000382950
  gene symbol: CTBP1
  hgvsc: ENST00000382950.4:n.501G>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1209G>T
  hgvsp: ENST00000382952.3:c.1209G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.781G>T
  hgvsp: ENST00000504092.1:c.781G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33096
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val414Val
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: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

4-1206112-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206112
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206112
    reference: chr 4
allele count: 37
allele frequency: 1.202313641385585e-3
allele num: 30774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.238T>A
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1206T>A
  hgvsp: ENST00000382952.3:c.1206T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.469T>A
  hgvsp: ENST00000503594.1:c.469T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.778T>A
  hgvsp: ENST00000504092.1:c.778T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1239T>A
  hgvsp: ENST00000290921.6:c.1239T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000382950
  gene symbol: CTBP1
  hgvsc: ENST00000382950.4:n.498T>A
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33022
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10441
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7892
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10374
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4212
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro413Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-1206115-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206115
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206115
    reference: chr 4
allele count: 2
allele frequency: 6.295643414756988e-5
allele num: 31768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000382950
  gene symbol: CTBP1
  hgvsc: ENST00000382950.4:n.495C>G
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.235C>G
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1236C>G
  hgvsp: ENST00000290921.6:c.1236C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.775C>G
  hgvsp: ENST00000504092.1:c.775C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1203C>G
  hgvsp: ENST00000382952.3:c.1203C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.466C>G
  hgvsp: ENST00000503594.1:c.466C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33049
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7941
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32718
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro412Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

4-1206116-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206116
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206116
    reference: chr 4
allele count: 1
allele frequency: 3.15357931251971e-5
allele num: 31710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.234C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1202C>T
  hgvsp: ENSP00000372411.3:p.Pro401Leu
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000382950
  gene symbol: CTBP1
  hgvsc: ENST00000382950.4:n.494C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1235C>T
  hgvsp: ENSP00000290921.6:p.Pro412Leu
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.465C>T
  hgvsp: ENSP00000422148.1:p.Pro156Leu
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.774C>T
  hgvsp: ENSP00000422364.1:p.Pro259Leu
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 33034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4414
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31960
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro412Leu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

4-1206124-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1206124
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 1206124
    reference: chr 4
allele count: 1
allele frequency: 3.027367401307823e-5
allele num: 33032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422364
  ensembl transcript: ENST00000504092
  gene symbol: CTBP1
  hgvsc: ENST00000504092.1:c.766C>T
  hgvsp: ENST00000504092.1:c.766C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000422148
  ensembl transcript: ENST00000503594
  gene symbol: CTBP1
  hgvsc: ENST00000503594.1:c.457C>T
  hgvsp: ENST00000503594.1:c.457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000372411
  ensembl transcript: ENST00000382952
  gene symbol: CTBP1
  hgvsc: ENST00000382952.3:c.1194C>T
  hgvsp: ENST00000382952.3:c.1194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000382950
  gene symbol: CTBP1
  hgvsc: ENST00000382950.4:n.486C>T
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159692
  ensembl protein: ENSP00000290921
  ensembl transcript: ENST00000290921
  gene symbol: CTBP1
  hgvsc: ENST00000290921.6:c.1227C>T
  hgvsp: ENST00000290921.6:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2494
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159692
  ensembl transcript: ENST00000514596
  gene symbol: CTBP1
  hgvsc: ENST00000514596.1:n.226C>T
  variant of: http://identifiers.org/hgnc/2494
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33115
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7989
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5454
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His409His
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3376
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2628
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.845018450184502e-3
allele num: 542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.717622810030917e-4
allele num: 5822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2964
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.926e0

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

DP
type: SiteQuality
SIO_000300: 1.52643e5

MQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.998e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.91e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.11e-1

QD
type: SiteQuality
SIO_000300: 9.09e0

GenotypeQuality
all individuals: 255
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3183
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 260
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.990430622009569e-4
allele num: 3344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.682e0

DP
type: SiteQuality
SIO_000300: 1.66125e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -3.075e0

QD
type: SiteQuality
SIO_000300: 3.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.74e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.75e-1

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 88
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 593
bin: 9.75e1
variant carriers: 122

GenotypeQuality
all individuals: 98
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 8.75e1
variant carriers: 1

South Asian
type: Population
allele count: 127
allele frequency: 1.831554658205942e-2
allele num: 6934
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.050505050505051e-3
allele num: 198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.70267e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.17e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

FS
type: SiteQuality
SIO_000300: 7.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.164e1

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

GenotypeQuality
all individuals: 141
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 246
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.558718861209964e-3
allele num: 562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.55e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.209e0

QD
type: SiteQuality
SIO_000300: 1.583e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.73e0

DP
type: SiteQuality
SIO_000300: 1.74299e5

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 110
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3308
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3181
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 9.75e1
variant carriers: 62

GenotypeQuality
all individuals: 704
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

South Asian
type: Population
allele count: 63
allele frequency: 8.646719736480922e-3
allele num: 7286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3588
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

DP
type: SiteQuality
SIO_000300: 1.78446e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

QD
type: SiteQuality
SIO_000300: 1.876e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.76e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 20

GenotypeQuality
all individuals: 3941
bin: 9.75e1
variant carriers: 3699

GenotypeQuality
all individuals: 96
bin: 9.25e1
variant carriers: 38

GenotypeQuality
all individuals: 501
bin: 2.5e0
variant carriers: 4

GenotypeQuality
all individuals: 343
bin: 6.75e1
variant carriers: 28

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 13

GenotypeQuality
all individuals: 141
bin: 7.25e1
variant carriers: 8

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 20

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 19

GenotypeQuality
all individuals: 2252
bin: 7.5e0
variant carriers: 111

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 7

GenotypeQuality
all individuals: 162
bin: 7.75e1
variant carriers: 18

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 27

GenotypeQuality
all individuals: 124
bin: 8.25e1
variant carriers: 23

European (Finnish)
type: Population
allele count: 199
allele frequency: 2.584415584415584e-1
allele num: 770
num of homozygotes: 24

European (Non-Finnish)
type: Population
allele count: 1082
allele frequency: 2.91958985429034e-1
allele num: 3706
num of homozygotes: 159

African
type: Population
allele count: 106
allele frequency: 1.866197183098592e-1
allele num: 568
num of homozygotes: 10

Latino
type: Population
allele count: 39
allele frequency: 2.096774193548387e-1
allele num: 186
num of homozygotes: 1

East Asian
type: Population
allele count: 74
allele frequency: 3.7e-1
allele num: 200
num of homozygotes: 10

Other
type: Population
allele count: 52
allele frequency: 3.333333333333333e-1
allele num: 156
num of homozygotes: 5

South Asian
type: Population
allele count: 3118
allele frequency: 4.155117270788913e-1
allele num: 7504
num of homozygotes: 675

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

QD
type: SiteQuality
SIO_000300: 1.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.077e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.6e0

DP
type: SiteQuality
SIO_000300: 2.49704e5

FS
type: SiteQuality
SIO_000300: 5.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

GenotypeQuality
all individuals: 152
bin: 1.75e1
variant carriers: 102

GenotypeQuality
all individuals: 78
bin: 2.75e1
variant carriers: 50

GenotypeQuality
all individuals: 342
bin: 2.25e1
variant carriers: 67

GenotypeQuality
all individuals: 1415
bin: 6.25e1
variant carriers: 32

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 34

GenotypeQuality
all individuals: 1843
bin: 7.5e0
variant carriers: 169

GenotypeQuality
all individuals: 126
bin: 1.25e1
variant carriers: 77

GenotypeQuality
all individuals: 204
bin: 7.75e1
variant carriers: 24

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 27

GenotypeQuality
all individuals: 148
bin: 9.25e1
variant carriers: 36

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 40

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 25

GenotypeQuality
all individuals: 155
bin: 8.25e1
variant carriers: 28

GenotypeQuality
all individuals: 430
bin: 6.75e1
variant carriers: 27

East Asian
type: Population
allele count: 39
allele frequency: 1.95e-1
allele num: 200
num of homozygotes: 3

African
type: Population
allele count: 162
allele frequency: 2.842105263157895e-1
allele num: 570
num of homozygotes: 23

Latino
type: Population
allele count: 43
allele frequency: 2.311827956989247e-1
allele num: 186
num of homozygotes: 4

South Asian
type: Population
allele count: 1782
allele frequency: 2.354029062087186e-1
allele num: 7570
num of homozygotes: 228

Other
type: Population
allele count: 43
allele frequency: 2.6875e-1
allele num: 160
num of homozygotes: 5

European (Finnish)
type: Population
allele count: 410
allele frequency: 5.036855036855037e-1
allele num: 814
num of homozygotes: 90

European (Non-Finnish)
type: Population
allele count: 1067
allele frequency: 2.833244822092406e-1
allele num: 3766
num of homozygotes: 146

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.176e-1

FS
type: SiteQuality
SIO_000300: 5.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.11e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 2.62634e5

QD
type: SiteQuality
SIO_000300: 1.762e1

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2815
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1899
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 113
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2324
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 9.229957805907173e-4
allele num: 7584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.288e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.43e-1

DP
type: SiteQuality
SIO_000300: 2.29107e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.512e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.93e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.54e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

QD
type: SiteQuality
SIO_000300: 1.355e1

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2310
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 206
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 257
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1896
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.317870321560359e-4
allele num: 7588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

DP
type: SiteQuality
SIO_000300: 2.29399e5

FS
type: SiteQuality
SIO_000300: 4.738e0

QD
type: SiteQuality
SIO_000300: 1.5e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.77e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

GenotypeQuality
all individuals: 3816
bin: 9.75e1
variant carriers: 3787

GenotypeQuality
all individuals: 155
bin: 1.75e1
variant carriers: 101

GenotypeQuality
all individuals: 361
bin: 2.25e1
variant carriers: 69

GenotypeQuality
all individuals: 621
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 131
bin: 1.25e1
variant carriers: 92

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 8

GenotypeQuality
all individuals: 87
bin: 9.25e1
variant carriers: 71

GenotypeQuality
all individuals: 146
bin: 7.75e1
variant carriers: 41

GenotypeQuality
all individuals: 146
bin: 7.25e1
variant carriers: 31

GenotypeQuality
all individuals: 1508
bin: 7.5e0
variant carriers: 151

GenotypeQuality
all individuals: 1691
bin: 6.25e1
variant carriers: 38

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 32

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 36

GenotypeQuality
all individuals: 497
bin: 6.75e1
variant carriers: 35

East Asian
type: Population
allele count: 108
allele frequency: 5.454545454545454e-1
allele num: 198
num of homozygotes: 30

South Asian
type: Population
allele count: 2763
allele frequency: 3.631703470031546e-1
allele num: 7608
num of homozygotes: 525

European (Finnish)
type: Population
allele count: 280
allele frequency: 3.233256351039261e-1
allele num: 866
num of homozygotes: 33

Latino
type: Population
allele count: 82
allele frequency: 4.361702127659575e-1
allele num: 188
num of homozygotes: 16

Other
type: Population
allele count: 56
allele frequency: 3.733333333333334e-1
allele num: 150
num of homozygotes: 14

African
type: Population
allele count: 205
allele frequency: 3.559027777777778e-1
allele num: 576
num of homozygotes: 35

European (Non-Finnish)
type: Population
allele count: 1510
allele frequency: 3.973684210526316e-1
allele num: 3800
num of homozygotes: 305

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.038e-1

DP
type: SiteQuality
SIO_000300: 2.81761e5

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

QD
type: SiteQuality
SIO_000300: 1.6e1

FS
type: SiteQuality
SIO_000300: 5.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

VQSLOD
type: SiteQuality
SIO_000300: 5.01e0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 261
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1187
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4080
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.636435539151068e-4
allele num: 7586
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

MQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

QD
type: SiteQuality
SIO_000300: 1.114e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.68e0

DP
type: SiteQuality
SIO_000300: 1.94391e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.31e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.81e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

GenotypeQuality
all individuals: 79
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2763
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 97
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 152
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 3.539823008849557e-3
allele num: 1130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3756
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.26e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

FS
type: SiteQuality
SIO_000300: 6.574e0

DP
type: SiteQuality
SIO_000300: 1.91457e5

QD
type: SiteQuality
SIO_000300: 1.359e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-1

GenotypeQuality
all individuals: 2834
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4211
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1101
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3764
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.050505050505051e-3
allele num: 198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7550
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.769e0

DP
type: SiteQuality
SIO_000300: 1.91553e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.16e-2

QD
type: SiteQuality
SIO_000300: 9.77e0

FS
type: SiteQuality
SIO_000300: 1.201e1

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.38e-1

GenotypeQuality
all individuals: 197
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1220
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.65041081367612e-4
allele num: 7546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.547e0

QD
type: SiteQuality
SIO_000300: 1.389e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.174e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.24e-2

FS
type: SiteQuality
SIO_000300: 4.339e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 1.92336e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 105
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.326259946949602e-4
allele num: 7540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1240
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

FS
type: SiteQuality
SIO_000300: 3.452e0

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.03e-2

DP
type: SiteQuality
SIO_000300: 1.92313e5

GenotypeQuality
all individuals: 192
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2761
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 444
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1312
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.97561622051418e-4
allele num: 7546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.94941e5

VQSLOD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.383e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.679e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-2

FS
type: SiteQuality
SIO_000300: 6.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 382
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 263
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2647
bin: 7.5e0
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.644103648863035e-4
allele num: 7564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1458
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.221e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.33e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.399e0

DP
type: SiteQuality
SIO_000300: 1.9803e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

VQSLOD
type: SiteQuality
SIO_000300: 4.55e-1

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

GenotypeQuality
all individuals: 2730
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 9.75e1
variant carriers: 32

GenotypeQuality
all individuals: 262
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 2

GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 69
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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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bin: 6.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 191
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5112
bin: 6.25e1
variant carriers: 1

Latino
type: Population
allele count: 2
allele frequency: 1.063829787234043e-2
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.604166666666667e-4
allele num: 3840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7566
num of homozygotes: 0

African
type: Population
allele count: 29
allele frequency: 5.141843971631205e-2
allele num: 564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1466
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.9978e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

FS
type: SiteQuality
SIO_000300: 5.18e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.85e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

QD
type: SiteQuality
SIO_000300: 1.495e1

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 191
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.613695765812859e-4
allele num: 3826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.98218e5

MQ
type: SiteQuality
SIO_000300: 5.839e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.94e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.63e-2

FS
type: SiteQuality
SIO_000300: 7.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.469e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

GenotypeQuality
all individuals: 252
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 6.75e1
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GenotypeQuality
all individuals: 22
bin: 2.75e1
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GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 34
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GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 31
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variant carriers: 15

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 191
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variant carriers: 0

GenotypeQuality
all individuals: 5090
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variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 15
allele frequency: 1.984126984126984e-3
allele num: 7560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3830
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.64e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

DP
type: SiteQuality
SIO_000300: 1.98448e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.088e1

FS
type: SiteQuality
SIO_000300: 1.134e0

GenotypeQuality
all individuals: 14
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 47
bin: 3.75e1
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GenotypeQuality
all individuals: 180
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
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GenotypeQuality
all individuals: 501
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GenotypeQuality
all individuals: 1049
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GenotypeQuality
all individuals: 95
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GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 42
bin: 5.25e1
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GenotypeQuality
all individuals: 35
bin: 1.75e1
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GenotypeQuality
all individuals: 83
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GenotypeQuality
all individuals: 66
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.329080276448698e-4
allele num: 7524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3792
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.95937e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.25e-2

FS
type: SiteQuality
SIO_000300: 2.843e0

VQSLOD
type: SiteQuality
SIO_000300: -2.039e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.59e0

QD
type: SiteQuality
SIO_000300: 7.64e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.75e1
variant carriers: 7

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

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 9.401020682245501e-4
allele num: 7446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1342
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQ
type: SiteQuality
SIO_000300: 5.944e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.34e-2

QD
type: SiteQuality
SIO_000300: 1.247e1

FS
type: SiteQuality
SIO_000300: 1.051e0

DP
type: SiteQuality
SIO_000300: 1.8427e5

GenotypeQuality
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bin: 1.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.350986219940557e-4
allele num: 7402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.762e1

MQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.208e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.48e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.762e0

DP
type: SiteQuality
SIO_000300: 1.77166e5

MQ
type: SiteQuality
SIO_000300: 5.915e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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: 910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.741228070175438e-4
allele num: 3648
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.21e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

QD
type: SiteQuality
SIO_000300: 1.44e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.786e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

DP
type: SiteQuality
SIO_000300: 1.7521e5

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.350621285791464e-4
allele num: 7404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.785e1

DP
type: SiteQuality
SIO_000300: 1.75578e5

FS
type: SiteQuality
SIO_000300: 1.259e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.23e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.045e0

VQSLOD
type: SiteQuality
SIO_000300: -1.591e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.34e-1

QD
type: SiteQuality
SIO_000300: 8.65e0

GenotypeQuality
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bin: 3.25e1
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

GenotypeQuality
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GenotypeQuality
all individuals: 10
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.779359430604982e-3
allele num: 562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3662
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -6.643e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.49e-1

QD
type: SiteQuality
SIO_000300: 1.093e1

DP
type: SiteQuality
SIO_000300: 1.76717e5

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.16e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

FS
type: SiteQuality
SIO_000300: 5.273e0

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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GenotypeQuality
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variant carriers: 0

African
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allele count: 3
allele frequency: 5.319148936170213e-3
allele num: 564
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3666
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.715e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.54e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

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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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 2.678810608090008e-4
allele num: 7466
num of homozygotes: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3642
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 648
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 564
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.409e1

FS
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.79e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.84e-2

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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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele count: 2
allele frequency: 2.671653753673524e-4
allele num: 7486
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3590
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.001e0

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

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

South Asian
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allele count: 1
allele frequency: 1.337971635001338e-4
allele num: 7474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

QD
type: SiteQuality
SIO_000300: 3.61e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.511e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.51e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.73372e5

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.977286312014345e-4
allele num: 3346
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.6122e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.56e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.744e-1

FS
type: SiteQuality
SIO_000300: 2.311e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.24e-2

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

GenotypeQuality
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variant carriers: 0

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: 122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3346
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.792114695340502e-3
allele num: 558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7092
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.311e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.744e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.24e-2

DP
type: SiteQuality
SIO_000300: 1.6122e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.402e1

GenotypeQuality
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bin: 4.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 18
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.711952487008166e-4
allele num: 2694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

QD
type: SiteQuality
SIO_000300: 1.629e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

DP
type: SiteQuality
SIO_000300: 1.14138e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.52e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 1.036484245439469e-3
allele num: 4824
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2542
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.569e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-2

QD
type: SiteQuality
SIO_000300: 1.317e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

DP
type: SiteQuality
SIO_000300: 1.03056e5

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 17

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 5.114083398898506e-3
allele num: 2542
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.020408163265306e-2
allele num: 98
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 1.036484245439469e-3
allele num: 4824
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 1.317e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

FS
type: SiteQuality
SIO_000300: 1.569e0

DP
type: SiteQuality
SIO_000300: 1.03056e5

GenotypeQuality
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bin: 2.25e1
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: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4646
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 9.932e4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.62e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.167e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 2.988643156007172e-4
allele num: 3346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1096
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

South Asian
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allele count: 8
allele frequency: 5.208333333333333e-3
allele num: 1536
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQRankSum
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.86e-2

FS
type: SiteQuality
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QD
type: SiteQuality
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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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GenotypeQuality
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bin: 3.25e1
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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bin: 6.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

Latino
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allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.136363636363636e-2
allele num: 88
num of homozygotes: 0

African
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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
allele num: 674
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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.347708894878706e-3
allele num: 742
num of homozygotes: 0

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

QD
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SIO_000300: 9.49e0

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.99e-2

GenotypeQuality
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bin: 7.5e0
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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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 2.173913043478261e-2
allele num: 46
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
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FS
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DP
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MQ
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ClippingRankSum
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SIO_000300: 3.8e-1

VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.06e-2

QD
type: SiteQuality
SIO_000300: 1.051e1

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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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.6737e4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.2e-2

QD
type: SiteQuality
SIO_000300: 2.027e1

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: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.803921568627451e-3
allele num: 102
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.188e0

DP
type: SiteQuality
SIO_000300: 3.5816e4

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.565e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3718
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 7.23e0

VQSLOD
type: SiteQuality
SIO_000300: -1.801e0

DP
type: SiteQuality
SIO_000300: 2.21839e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 120
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GenotypeQuality
all individuals: 255
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 4.069767441860465e-3
allele num: 1720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.39187e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.467e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.23e-2

FS
type: SiteQuality
SIO_000300: 7.57e-1

QD
type: SiteQuality
SIO_000300: 9.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 104
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GenotypeQuality
all individuals: 239
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.686727565824826e-4
allele num: 3722
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 3.225806451612903e-2
allele num: 62
num of homozygotes: 1

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 560
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
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ClippingRankSum
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DP
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 582
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 frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 3768
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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DP
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MQRankSum
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BaseQRankSum
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FS
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MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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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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bin: 3.75e1
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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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
allele num: 604
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Latino
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African
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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SIO_000300: -1.534e0

DP
type: SiteQuality
SIO_000300: 3.04455e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e0

FS
type: SiteQuality
SIO_000300: 4.274e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.88e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.129e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

GenotypeQuality
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 87
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377885e-4
allele num: 1646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.883239171374765e-4
allele num: 5310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.218e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 3.57807e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.89e-2

GenotypeQuality
all individuals: 2849
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

DP
type: SiteQuality
SIO_000300: 3.95367e5

BaseQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

QD
type: SiteQuality
SIO_000300: 1.529e1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.441e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.12e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 336
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 3.184713375796179e-3
allele num: 628
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.74e-2

FS
type: SiteQuality
SIO_000300: 3.443e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.802e-1

QD
type: SiteQuality
SIO_000300: 8.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 4.20119e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 438
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17452
bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 3513
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1236
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.912363067292645e-4
allele num: 2556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.292657704239917e-4
allele num: 7736
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.34569e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.069e-1

QD
type: SiteQuality
SIO_000300: 8.35e0

FS
type: SiteQuality
SIO_000300: 2.392e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.58e-2

MQ
type: SiteQuality
SIO_000300: 5.871e1

GenotypeQuality
all individuals: 48
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3792
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 119
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30982
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 3.405994550408719e-4
allele num: 2936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

European (Non-Finnish)
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: 204
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

QD
type: SiteQuality
SIO_000300: 9.84e0

DP
type: SiteQuality
SIO_000300: 4.41748e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.43e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

GenotypeQuality
all individuals: 164
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 124
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 6.024096385542169e-4
allele num: 1660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 960
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3540
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.252e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.155e0

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.68e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

DP
type: SiteQuality
SIO_000300: 4.75004e5

GenotypeQuality
all individuals: 80
bin: 9.75e1
variant carriers: 43

GenotypeQuality
all individuals: 2403
bin: 1.75e1
variant carriers: 3

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 164
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variant carriers: 2

GenotypeQuality
all individuals: 124
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 9.25e1
variant carriers: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.516174402250352e-4
allele num: 2844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

South Asian
type: Population
allele count: 48
allele frequency: 1.35593220338983e-2
allele num: 3540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1660
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.155e0

QD
type: SiteQuality
SIO_000300: 1.252e1

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

DP
type: SiteQuality
SIO_000300: 4.75004e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.68e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 467
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 970
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.481894150417827e-4
allele num: 2872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 6.955484896661367e-4
allele num: 10064
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

FS
type: SiteQuality
SIO_000300: 2.148e0

QD
type: SiteQuality
SIO_000300: 1.061e1

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

DP
type: SiteQuality
SIO_000300: 4.80064e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.01e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4807
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 38
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 492
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GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 167
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.963786303334529e-5
allele num: 11156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3834
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.763668430335097e-3
allele num: 1134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.14e-1

FS
type: SiteQuality
SIO_000300: 9.97e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.82e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

DP
type: SiteQuality
SIO_000300: 4.96041e5

GenotypeQuality
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bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 122
bin: 7.25e1
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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
all individuals: 499
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GenotypeQuality
all individuals: 49
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2244
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.963051441312311e-5
allele num: 12558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.1425e5

MQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.69e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.085e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.69e0

GenotypeQuality
all individuals: 4598
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 1265
bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 329
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GenotypeQuality
all individuals: 90
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.747133560582585e-5
allele num: 12908
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4124
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.016e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.448e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.25e-2

FS
type: SiteQuality
SIO_000300: 1.095e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

DP
type: SiteQuality
SIO_000300: 5.15187e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 5.739e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 371
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.747133560582585e-5
allele num: 12908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.25e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 5.739e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.448e0

QD
type: SiteQuality
SIO_000300: 1.016e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 1.095e0

DP
type: SiteQuality
SIO_000300: 5.15187e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

GenotypeQuality
all individuals: 256
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.21622e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

GenotypeQuality
all individuals: 713
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
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GenotypeQuality
all individuals: 214
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.864360241625481e-5
allele num: 14568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

DP
type: SiteQuality
SIO_000300: 5.25756e5

QD
type: SiteQuality
SIO_000300: 9.199999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.47e-2

FS
type: SiteQuality
SIO_000300: 2.632e0

VQSLOD
type: SiteQuality
SIO_000300: 2.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

GenotypeQuality
all individuals: 503
bin: 4.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 339
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11
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variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2600
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 6.385696040868455e-4
allele num: 1566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 1.90865712338105e-3
allele num: 14670
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.298e1

FS
type: SiteQuality
SIO_000300: 3.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 5.16785e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.55e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 375
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variant carriers: 1

GenotypeQuality
all individuals: 514
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variant carriers: 0

GenotypeQuality
all individuals: 101
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2754
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.67e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

FS
type: SiteQuality
SIO_000300: 5.59e0

QD
type: SiteQuality
SIO_000300: 7.59e0

DP
type: SiteQuality
SIO_000300: 5.23079e5

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 106
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GenotypeQuality
all individuals: 407
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variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 9.75e1
variant carriers: 14

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3414
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.494505494505495e-4
allele num: 1820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 9.345794392523365e-4
allele num: 16050
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.55e-2

DP
type: SiteQuality
SIO_000300: 5.29006e5

FS
type: SiteQuality
SIO_000300: 2.841e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 1.406e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 4054
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 115
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16758
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2970
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.562e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.16e0

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 5.33806e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.35e-2

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: 2

GenotypeQuality
all individuals: 65
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variant carriers: 33

GenotypeQuality
all individuals: 118
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variant carriers: 2

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 479
bin: 4.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 2.004716981132075e-3
allele num: 16960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3474
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.030927835051546e-3
allele num: 1940
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3010
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.901960784313725e-3
allele num: 204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4570
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.35e-2

DP
type: SiteQuality
SIO_000300: 5.39785e5

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

FS
type: SiteQuality
SIO_000300: 1.745e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 36
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 39
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GenotypeQuality
all individuals: 446
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3540
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 9.930486593843098e-4
allele num: 2014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.26e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 1.034e1

DP
type: SiteQuality
SIO_000300: 5.47361e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 40
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2124
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variant carriers: 0

GenotypeQuality
all individuals: 10050
bin: 7.5e0
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GenotypeQuality
all individuals: 447
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GenotypeQuality
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GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 440
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GenotypeQuality
all individuals: 12
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.13857998289136e-4
allele num: 4676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17500
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.25e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 5.46185e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

FS
type: SiteQuality
SIO_000300: 2.363e0

VQSLOD
type: SiteQuality
SIO_000300: -2.864e0

QD
type: SiteQuality
SIO_000300: 2.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 33563
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GenotypeQuality
all individuals: 38
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GenotypeQuality
all individuals: 132
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 1540
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.453157378121933e-5
allele num: 18338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4776
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.366e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.21e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.016999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.39e0