3-193361458-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361458
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361458
    reference: chr 3
allele count: 2
allele frequency: 1.849591240335886e-5
allele num: 108132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1315+42T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.508+42T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1312+42T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1477+42T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1423+42T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1366+42T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1369+42T>C
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16215
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14654
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10504
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6678
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6994
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-193361463-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361463
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361463
    reference: chr 3
allele count: 1
allele frequency: 9.403976001053246e-6
allele num: 106338
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1423+47T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1312+47T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1477+47T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1369+47T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1366+47T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.508+47T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1315+47T>A
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8121
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6846
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9657
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

3-193361464-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361464
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361464
    reference: chr 3
allele count: 1
allele frequency: 9.528528414071731e-6
allele num: 104948
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1423+48A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1366+48A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1369+48A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1315+48A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1312+48A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1477+48A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.508+48A>G
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14323
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4530
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6888
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8101
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

3-193361468-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361468
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361468
    reference: chr 3
allele count: 14
allele frequency: 1.340919104266038e-4
allele num: 104406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1315+52A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1366+52A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1477+52A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.508+52A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1369+52A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1312+52A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1423+52A>G
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15344
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14226
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8815
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6925
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7003
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

3-193361713-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361713
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361713
    reference: chr 3
allele count: 1
allele frequency: 8.743245842586601e-6
allele num: 114374
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1424-51G>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1313-51G>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1478-51G>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.509-51G>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1370-51G>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1367-51G>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1316-51G>C
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10674
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4485
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2428
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6987
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4627
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-193361714-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361714
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361713
    reference: chr 3
allele count: 1
allele frequency: 8.742175752701331e-6
allele num: 114388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.509-49delC
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1478-49delC
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1424-49delC
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1367-49delC
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1316-49delC
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1370-49delC
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1313-49delC
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8101
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4642
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: TC
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

3-193361722-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361722
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361722
    reference: chr 3
allele count: 1
allele frequency: 8.7292026746277e-6
allele num: 114558
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1316-42A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1478-42A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.509-42A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1313-42A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1367-42A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1424-42A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1370-42A>G
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

3-193361737-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361737
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361737
    reference: chr 3
allele count: 2
allele frequency: 1.728518832212677e-5
allele num: 115706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1316-27A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1367-27A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.509-27A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1424-27A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1370-27A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1313-27A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1478-27A>G
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22727
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21877
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-193361739-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361739
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361739
    reference: chr 3
allele count: 1
allele frequency: 8.619500758516067e-6
allele num: 116016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1316-25A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1367-25A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1370-25A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1424-25A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1313-25A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.509-25A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1478-25A>C
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10104
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

3-193361740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361740
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361740
    reference: chr 3
allele count: 1
allele frequency: 8.602742554326319e-6
allele num: 116242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1313-24G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1367-24G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1424-24G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1478-24G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1316-24G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.509-24G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1370-24G>A
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22995
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

3-193361742-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361742
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361742
    reference: chr 3
allele count: 10
allele frequency: 8.573829243616784e-5
allele num: 116634
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1478-22G>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1316-22G>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1370-22G>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1367-22G>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1313-22G>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.509-22G>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1424-22G>C
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10419
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24282
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5870
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

3-193361744-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361744
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361744
    reference: chr 3
allele count: 1
allele frequency: 8.547154652216277e-6
allele num: 116998
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.509-20C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1367-20C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1424-20C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1370-20C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1313-20C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1478-20C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1316-20C>T
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5948
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

3-193361745-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361745
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361746
    reference: chr 3
allele count: 1
allele frequency: 8.54481756814492e-6
allele num: 117030
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1313-12dupT
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1316-12dupT
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1478-12dupT
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1424-12dupT
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1370-12dupT
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1367-12dupT
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.509-12dupT
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

3-193361752-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361752
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361752
    reference: chr 3
allele count: 1
allele frequency: 8.459378066524549e-6
allele num: 118212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1316-12T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1313-12T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.509-12T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1478-12T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1370-12T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1367-12T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1424-12T>A
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

3-193361757-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361757
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361757
    reference: chr 3
allele count: 3
allele frequency: 2.521347408054865e-5
allele num: 118984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1370-7T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1313-7T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.509-7T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1424-7T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1478-7T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1367-7T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1316-7T>C
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1424-7T>C
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

3-193361796-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361796
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361796
    reference: chr 3
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1348A>G
  hgvsp: ENSP00000354781.2:p.Thr450Ala
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1402A>G
  hgvsp: ENSP00000355311.2:p.Thr468Ala
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1345A>G
  hgvsp: ENSP00000376233.3:p.Thr449Ala
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1399A>G
  hgvsp: ENSP00000354429.2:p.Thr467Ala
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.541A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1510A>G
  hgvsp: ENSP00000355324.2:p.Thr504Ala
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1456A>G
  hgvsp: ENSP00000354681.3:p.Thr486Ala
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr486Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

3-193361799-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361799
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361799
    reference: chr 3
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1351G>C
  hgvsp: ENSP00000354781.2:p.Asp451His
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1513G>C
  hgvsp: ENSP00000355324.2:p.Asp505His
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.544G>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1405G>C
  hgvsp: ENSP00000355311.2:p.Asp469His
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1402G>C
  hgvsp: ENSP00000354429.2:p.Asp468His
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1348G>C
  hgvsp: ENSP00000376233.3:p.Asp450His
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1459G>C
  hgvsp: ENSP00000354681.3:p.Asp487His
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp487His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

3-193361800-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361800
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361800
    reference: chr 3
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1403A>G
  hgvsp: ENSP00000354429.2:p.Asp468Gly
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1349A>G
  hgvsp: ENSP00000376233.3:p.Asp450Gly
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1460A>G
  hgvsp: ENSP00000354681.3:p.Asp487Gly
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1352A>G
  hgvsp: ENSP00000354781.2:p.Asp451Gly
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1514A>G
  hgvsp: ENSP00000355324.2:p.Asp505Gly
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1406A>G
  hgvsp: ENSP00000355311.2:p.Asp469Gly
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.545A>G
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp487Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

3-193361801-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361801
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361801
    reference: chr 3
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1515C>T
  hgvsp: ENST00000361510.2:c.1515C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1404C>T
  hgvsp: ENST00000361828.2:c.1404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1407C>T
  hgvsp: ENST00000361715.2:c.1407C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1461C>T
  hgvsp: ENST00000361908.3:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.546C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1353C>T
  hgvsp: ENST00000361150.2:c.1353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1350C>T
  hgvsp: ENST00000392438.3:c.1350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12566
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp487Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

3-193361804-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361804
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361804
    reference: chr 3
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1518G>C
  hgvsp: ENSP00000355324.2:p.Leu506Phe
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1356G>C
  hgvsp: ENSP00000354781.2:p.Leu452Phe
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1410G>C
  hgvsp: ENSP00000355311.2:p.Leu470Phe
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.549G>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1353G>C
  hgvsp: ENSP00000376233.3:p.Leu451Phe
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1407G>C
  hgvsp: ENSP00000354429.2:p.Leu469Phe
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1464G>C
  hgvsp: ENSP00000354681.3:p.Leu488Phe
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu488Phe
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

3-193361813-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361813
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361813
    reference: chr 3
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1362A>G
  hgvsp: ENST00000392438.3:c.1362A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1419A>G
  hgvsp: ENST00000361715.2:c.1419A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1416A>G
  hgvsp: ENST00000361828.2:c.1416A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1527A>G
  hgvsp: ENST00000361510.2:c.1527A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.558A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1365A>G
  hgvsp: ENST00000361150.2:c.1365A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1473A>G
  hgvsp: ENST00000361908.3:c.1473A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6658
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3934
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln491Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

3-193361824-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361824
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361824
    reference: chr 3
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1427A>G
  hgvsp: ENSP00000354429.2:p.His476Arg
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.569A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1430A>G
  hgvsp: ENSP00000355311.2:p.His477Arg
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1538A>G
  hgvsp: ENSP00000355324.2:p.His513Arg
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1373A>G
  hgvsp: ENSP00000376233.3:p.His458Arg
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1376A>G
  hgvsp: ENSP00000354781.2:p.His459Arg
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1484A>G
  hgvsp: ENSP00000354681.3:p.His495Arg
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His495Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

3-193361836-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361836
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361836
    reference: chr 3
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1496C>T
  hgvsp: ENSP00000354681.3:p.Thr499Ile
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1388C>T
  hgvsp: ENSP00000354781.2:p.Thr463Ile
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1439C>T
  hgvsp: ENSP00000354429.2:p.Thr480Ile
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.581C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1550C>T
  hgvsp: ENSP00000355324.2:p.Thr517Ile
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1442C>T
  hgvsp: ENSP00000355311.2:p.Thr481Ile
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1385C>T
  hgvsp: ENSP00000376233.3:p.Thr462Ile
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12573
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr499Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

3-193361840-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361840
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361840
    reference: chr 3
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1554A>G
  hgvsp: ENSP00000355324.2:p.Ile518Met
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.585A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1389A>G
  hgvsp: ENSP00000376233.3:p.Ile463Met
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1443A>G
  hgvsp: ENSP00000354429.2:p.Ile481Met
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1446A>G
  hgvsp: ENSP00000355311.2:p.Ile482Met
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1392A>G
  hgvsp: ENSP00000354781.2:p.Ile464Met
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1500A>G
  hgvsp: ENSP00000354681.3:p.Ile500Met
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile500Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

3-193361840-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361840
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361840
    reference: chr 3
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1554A>T
  hgvsp: ENST00000361510.2:c.1554A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1446A>T
  hgvsp: ENST00000361715.2:c.1446A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1500A>T
  hgvsp: ENST00000361908.3:c.1500A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.585A>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1392A>T
  hgvsp: ENST00000361150.2:c.1392A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1389A>T
  hgvsp: ENST00000392438.3:c.1389A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1443A>T
  hgvsp: ENST00000361828.2:c.1443A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28081
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile500Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

3-193361841-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361841
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361841
    reference: chr 3
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1555T>C
  hgvsp: ENSP00000355324.2:p.Phe519Leu
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1393T>C
  hgvsp: ENSP00000354781.2:p.Phe465Leu
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1447T>C
  hgvsp: ENSP00000355311.2:p.Phe483Leu
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.586T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1444T>C
  hgvsp: ENSP00000354429.2:p.Phe482Leu
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1390T>C
  hgvsp: ENSP00000376233.3:p.Phe464Leu
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1501T>C
  hgvsp: ENSP00000354681.3:p.Phe501Leu
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6678
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe501Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

3-193361843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361843
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361843
    reference: chr 3
allele count: 2
allele frequency: 1.648342591524222e-5
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1503C>T
  hgvsp: ENST00000361908.3:c.1503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1392C>T
  hgvsp: ENST00000392438.3:c.1392C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.588C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1557C>T
  hgvsp: ENST00000361510.2:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1395C>T
  hgvsp: ENST00000361150.2:c.1395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1446C>T
  hgvsp: ENST00000361828.2:c.1446C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1449C>T
  hgvsp: ENST00000361715.2:c.1449C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe501Phe
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

3-193361855-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361855
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361855
    reference: chr 3
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1515A>G
  hgvsp: ENST00000361908.3:c.1515A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1461A>G
  hgvsp: ENST00000361715.2:c.1461A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.600A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1458A>G
  hgvsp: ENST00000361828.2:c.1458A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1407A>G
  hgvsp: ENST00000361150.2:c.1407A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1569A>G
  hgvsp: ENST00000361510.2:c.1569A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1404A>G
  hgvsp: ENST00000392438.3:c.1404A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12576
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6685
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys505Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

3-193361867-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361867
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361867
    reference: chr 3
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1419A>G
  hgvsp: ENST00000361150.2:c.1419A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1470A>G
  hgvsp: ENST00000361828.2:c.1470A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1527A>G
  hgvsp: ENST00000361908.3:c.1527A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1473A>G
  hgvsp: ENST00000361715.2:c.1473A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1581A>G
  hgvsp: ENST00000361510.2:c.1581A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.612A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1416A>G
  hgvsp: ENST00000392438.3:c.1416A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala509Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

3-193361877-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361877
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361877
    reference: chr 3
allele count: 1
allele frequency: 8.34278849362611e-6
allele num: 119864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1483G>A
  hgvsp: ENSP00000355311.2:p.Val495Ile
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1426G>A
  hgvsp: ENSP00000376233.3:p.Val476Ile
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1537G>A
  hgvsp: ENSP00000354681.3:p.Val513Ile
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1480G>A
  hgvsp: ENSP00000354429.2:p.Val494Ile
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1429G>A
  hgvsp: ENSP00000354781.2:p.Val477Ile
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1591G>A
  hgvsp: ENSP00000355324.2:p.Val531Ile
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.622G>A
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12401
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val513Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

3-193361877-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361877
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361877
    reference: chr 3
allele count: 634
allele frequency: 5.289327904958953e-3
allele num: 119864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1483G>T
  hgvsp: ENSP00000355311.2:p.Val495Leu
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1480G>T
  hgvsp: ENSP00000354429.2:p.Val494Leu
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1537G>T
  hgvsp: ENSP00000354681.3:p.Val513Leu
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1591G>T
  hgvsp: ENSP00000355324.2:p.Val531Leu
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.622G>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1426G>T
  hgvsp: ENSP00000376233.3:p.Val476Leu
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1429G>T
  hgvsp: ENSP00000354781.2:p.Val477Leu
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 6.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6791
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 9.75e1
  variant carriers: 354
genotype depth: GenotypeDepth
  all individuals: 26439
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 11703
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 7.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 7.25e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 7.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 9.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 8.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 8.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.5e0
  variant carriers: 23
hgvs: p.Val513Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

3-193361883-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361883
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361883
    reference: chr 3
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1432A>G
  hgvsp: ENSP00000376233.3:p.Ser478Gly
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1543A>G
  hgvsp: ENSP00000354681.3:p.Ser515Gly
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1435A>G
  hgvsp: ENSP00000354781.2:p.Ser479Gly
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.628A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1597A>G
  hgvsp: ENSP00000355324.2:p.Ser533Gly
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1486A>G
  hgvsp: ENSP00000354429.2:p.Ser496Gly
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1489A>G
  hgvsp: ENSP00000355311.2:p.Ser497Gly
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27456
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser515Gly
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

3-193361893-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361893
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361893
    reference: chr 3
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1553G>A
  hgvsp: ENSP00000354681.3:p.Arg518Lys
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1496G>A
  hgvsp: ENSP00000354429.2:p.Arg499Lys
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1445G>A
  hgvsp: ENSP00000354781.2:p.Arg482Lys
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.638G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1442G>A
  hgvsp: ENSP00000376233.3:p.Arg481Lys
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1607G>A
  hgvsp: ENSP00000355324.2:p.Arg536Lys
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1499G>A
  hgvsp: ENSP00000355311.2:p.Arg500Lys
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6974
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27383
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13392
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg518Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

3-193361894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361894
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361894
    reference: chr 3
allele count: 2
allele frequency: 1.649049323065253e-5
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1554G>A
  hgvsp: ENST00000361908.3:c.1554G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1446G>A
  hgvsp: ENST00000361150.2:c.1446G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1443G>A
  hgvsp: ENST00000392438.3:c.1443G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1500G>A
  hgvsp: ENST00000361715.2:c.1500G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1497G>A
  hgvsp: ENST00000361828.2:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1608G>A
  hgvsp: ENST00000361510.2:c.1608G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.639G>A
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1554G>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

3-193361899-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361899
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361899
    reference: chr 3
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1500+5G>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1608+5G>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.644G>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1554+5G>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1497+5G>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1443+5G>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1446+5G>C
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13394
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3902
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27285
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1554+5G>C
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

3-193361913-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361913
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361913
    reference: chr 3
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.658T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1446+19T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1497+19T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1443+19T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1554+19T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1500+19T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1608+19T>C
  variant of: http://identifiers.org/hgnc/8140
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26813
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD

3-193361914-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361914
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361914
    reference: chr 3
allele count: 1
allele frequency: 8.259820927082301e-6
allele num: 121068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1500+20T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1443+20T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1446+20T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1497+20T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.659T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1608+20T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1554+20T>A
  variant of: http://identifiers.org/hgnc/8140
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13394
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26779
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

3-193361916-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361916
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361916
    reference: chr 3
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1443+22C>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1554+22C>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1497+22C>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1608+22C>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1446+22C>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.661C>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1500+22C>G
  variant of: http://identifiers.org/hgnc/8140
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6484
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

3-193361916-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361916
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361916
    reference: chr 3
allele count: 30
allele frequency: 2.478724283235561e-4
allele num: 121030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1446+22C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1500+22C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1443+22C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.661C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1497+22C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1608+22C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1554+22C>T
  variant of: http://identifiers.org/hgnc/8140
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11700
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 25780
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

3-193361917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361917
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361917
    reference: chr 3
allele count: 7994
allele frequency: 6.607376060040004e-2
allele num: 120986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1500+23G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1443+23G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.662G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1554+23G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1497+23G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1608+23G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1446+23G>A
  variant of: http://identifiers.org/hgnc/8140
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 325
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 6.25e1
  variant carriers: 682
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 3.25e1
  variant carriers: 351
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 3.75e1
  variant carriers: 396
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 4.25e1
  variant carriers: 492
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 4.75e1
  variant carriers: 594
genotype depth: GenotypeDepth
  all individuals: 10473
  bin: 2.75e1
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 5.25e1
  variant carriers: 652
genotype depth: GenotypeDepth
  all individuals: 22337
  bin: 2.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 5.75e1
  variant carriers: 663
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 9.75e1
  variant carriers: 1217
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 6.75e1
  variant carriers: 592
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 7.75e1
  variant carriers: 433
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 7.25e1
  variant carriers: 512
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23249
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 7.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 7.25e1
  variant carriers: 6
num of homozygotes: 363
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

3-193361930-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361930
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361930
    reference: chr 3
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1608+36T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1443+36T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1500+36T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1446+36T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.675T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1497+36T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1554+36T>A
  variant of: http://identifiers.org/hgnc/8140
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15778
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23579
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

3-193361932-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361932
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361932
    reference: chr 3
allele count: 2
allele frequency: 1.656753756689143e-5
allele num: 120718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1443+38G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1500+38G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1497+38G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1608+38G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1554+38G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.677G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1446+38G>A
  variant of: http://identifiers.org/hgnc/8140
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6089
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ

3-193361939-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193361939
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193361939
    reference: chr 3
allele count: 6
allele frequency: 4.9750418732691e-5
allele num: 120602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1446+45C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1497+45C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1608+45C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1500+45C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000475899
  gene symbol: OPA1
  hgvsc: ENST00000475899.1:n.684C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1554+45C>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1443+45C>T
  variant of: http://identifiers.org/hgnc/8140
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10658
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3845
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22435
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS

3-193363298-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363298
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363298
    reference: chr 3
allele count: 1
allele frequency: 1.092776745710851e-5
allele num: 91510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1609-44T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1444-44T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1501-44T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1555-44T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1447-44T>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1498-44T>A
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17836
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4484
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3361
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7871
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4947
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8378
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

3-193363298-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363298
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363298
    reference: chr 3
allele count: 21
allele frequency: 2.294831165992788e-4
allele num: 91510
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1444-44T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1609-44T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1501-44T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1498-44T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1555-44T>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1447-44T>C
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12564
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7851
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17836
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8282
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6518
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4484
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8378
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7871
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10981
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3361
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

3-193363301-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363301
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363301
    reference: chr 3
allele count: 1
allele frequency: 1.086814763291745e-5
allele num: 92012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1498-41A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1447-41A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1501-41A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1444-41A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1609-41A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1555-41A>G
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11674
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10424
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4928
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4482
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: A
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

3-193363303-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363303
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363303
    reference: chr 3
allele count: 1
allele frequency: 1.08502235146044e-5
allele num: 92164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1447-39A>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1555-39A>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1444-39A>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1609-39A>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1501-39A>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1498-39A>T
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17042
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5882
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4439
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

3-193363304-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363304
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363304
    reference: chr 3
allele count: 1
allele frequency: 1.085634879277401e-5
allele num: 92112
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1447-38C>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1498-38C>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1444-38C>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1501-38C>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1555-38C>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1609-38C>G
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16730
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5648
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4419
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12227
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

3-193363315-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363315
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363315
    reference: chr 3
allele count: 2
allele frequency: 2.104111433741531e-5
allele num: 95052
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1444-27A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1498-27A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1447-27A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1555-27A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1501-27A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1609-27A>G
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21539
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2857
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5103
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS

3-193363335-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363335
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363335
    reference: chr 3
allele count: 2
allele frequency: 1.886472108509876e-5
allele num: 106018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1498-7A>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1555-7A>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1501-7A>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1447-7A>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1609-7A>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1444-7A>T
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1555-7A>T
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

3-193363338-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363338
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363338
    reference: chr 3
allele count: 1
allele frequency: 9.302325581395349e-6
allele num: 107500
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1501-4A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1447-4A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1444-4A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1498-4A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1609-4A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1555-4A>G
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34304
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4945
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1555-4A>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ

3-193363346-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363346
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363346
    reference: chr 3
allele count: 1
allele frequency: 8.971345522401449e-6
allele num: 111466
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1505A>G
  hgvsp: ENSP00000355311.2:p.Gln502Arg
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1448A>G
  hgvsp: ENSP00000376233.3:p.Gln483Arg
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1502A>G
  hgvsp: ENSP00000354429.2:p.Gln501Arg
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1451A>G
  hgvsp: ENSP00000354781.2:p.Gln484Arg
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1559A>G
  hgvsp: ENSP00000354681.3:p.Gln520Arg
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1613A>G
  hgvsp: ENSP00000355324.2:p.Gln538Arg
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4778
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln520Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

3-193363347-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363347
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363347
    reference: chr 3
allele count: 1
allele frequency: 8.946784525641484e-6
allele num: 111772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1506G>A
  hgvsp: ENST00000361715.2:c.1506G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1449G>A
  hgvsp: ENST00000392438.3:c.1449G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1503G>A
  hgvsp: ENST00000361828.2:c.1503G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1560G>A
  hgvsp: ENST00000361908.3:c.1560G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1452G>A
  hgvsp: ENST00000361150.2:c.1452G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1614G>A
  hgvsp: ENST00000361510.2:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4602
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln520Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

3-193363354-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363354
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363354
    reference: chr 3
allele count: 1
allele frequency: 8.747528823107472e-6
allele num: 114318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1459A>T
  hgvsp: ENSP00000354781.2:p.Ile487Phe
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1456A>T
  hgvsp: ENSP00000376233.3:p.Ile486Phe
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1621A>T
  hgvsp: ENSP00000355324.2:p.Ile541Phe
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1567A>T
  hgvsp: ENSP00000354681.3:p.Ile523Phe
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1513A>T
  hgvsp: ENSP00000355311.2:p.Ile505Phe
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1510A>T
  hgvsp: ENSP00000354429.2:p.Ile504Phe
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8205
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40971
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile523Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ

3-193363363-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363363
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363363
    reference: chr 3
allele count: 2
allele frequency: 1.717327837884252e-5
allele num: 116460
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1519A>G
  hgvsp: ENSP00000354429.2:p.Lys507Glu
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1468A>G
  hgvsp: ENSP00000354781.2:p.Lys490Glu
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1576A>G
  hgvsp: ENSP00000354681.3:p.Lys526Glu
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1630A>G
  hgvsp: ENSP00000355324.2:p.Lys544Glu
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1465A>G
  hgvsp: ENSP00000376233.3:p.Lys489Glu
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1522A>G
  hgvsp: ENSP00000355311.2:p.Lys508Glu
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8710
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4948
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys526Glu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

3-193363365-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363365
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363365
    reference: chr 3
allele count: 1
allele frequency: 8.569420878537029e-6
allele num: 116694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1470G>A
  hgvsp: ENST00000361150.2:c.1470G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1521G>A
  hgvsp: ENST00000361828.2:c.1521G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1524G>A
  hgvsp: ENST00000361715.2:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1467G>A
  hgvsp: ENST00000392438.3:c.1467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1632G>A
  hgvsp: ENST00000361510.2:c.1632G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1578G>A
  hgvsp: ENST00000361908.3:c.1578G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4947
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys526Lys
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-193363398-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363398
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363398
    reference: chr 3
allele count: 1
allele frequency: 8.399690891375198e-6
allele num: 119052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1503T>C
  hgvsp: ENST00000361150.2:c.1503T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1611T>C
  hgvsp: ENST00000361908.3:c.1611T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1500T>C
  hgvsp: ENST00000392438.3:c.1500T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1557T>C
  hgvsp: ENST00000361715.2:c.1557T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1665T>C
  hgvsp: ENST00000361510.2:c.1665T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1554T>C
  hgvsp: ENST00000361828.2:c.1554T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43762
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala537Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-193363429-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363429
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363429
    reference: chr 3
allele count: 1
allele frequency: 8.362742310458446e-6
allele num: 119578
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1516+15A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1570+15A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1681+15A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1519+15A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000483516
  gene symbol: OPA1
  hgvsc: ENST00000483516.1:n.14+15A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1627+15A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1573+15A>C
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42749
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

3-193363437-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363437
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363437
    reference: chr 3
allele count: 191
allele frequency: 1.59546920159714e-3
allele num: 119714
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000483516
  gene symbol: OPA1
  hgvsc: ENST00000483516.1:n.14+23A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1573+23A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1681+23A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1516+23A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1627+23A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1519+23A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1570+23A>G
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 11372
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 37205
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5102
  bin: 9.75e1
  variant carriers: 190
num of homozygotes: 1
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-193363440-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363440
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363440
    reference: chr 3
allele count: 1
allele frequency: 8.353660574063554e-6
allele num: 119708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000483516
  gene symbol: OPA1
  hgvsc: ENST00000483516.1:n.14+26T>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1573+26T>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1570+26T>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1681+26T>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1627+26T>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1516+26T>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1519+26T>G
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4955
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/3-193363442-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363442
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363442
    reference: chr 3
allele count: 2
allele frequency: 1.670090351888037e-5
allele num: 119754
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1519+28A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1570+28A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1627+28A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1681+28A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000483516
  gene symbol: OPA1
  hgvsc: ENST00000483516.1:n.14+28A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1516+28A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1573+28A>C
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

3-193363448-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363448
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363448
    reference: chr 3
allele count: 3
allele frequency: 2.502711270543088e-5
allele num: 119870
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1570+34A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1627+34A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1516+34A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1519+34A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000483516
  gene symbol: OPA1
  hgvsc: ENST00000483516.1:n.14+34A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1681+34A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1573+34A>G
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4957
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

3-193363458-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363458
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363458
    reference: chr 3
allele count: 1
allele frequency: 8.332500083325001e-6
allele num: 120012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1516+44G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1681+44G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000483516
  gene symbol: OPA1
  hgvsc: ENST00000483516.1:n.14+44G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1519+44G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1573+44G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1570+44G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1627+44G>A
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-193363470-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363470
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363468
    reference: chr 3
allele count: 4
allele frequency: 3.3309461552554e-5
allele num: 120086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1574-45_1574-44delAA
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1520-45_1520-44delAA
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000483516
  gene symbol: OPA1
  hgvsc: ENST00000483516.1:n.15-45_15-44delAA
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1571-45_1571-44delAA
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1628-45_1628-44delAA
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1682-45_1682-44delAA
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1517-45_1517-44delAA
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45075
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: TAA
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/3-193363479-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363479
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363479
    reference: chr 3
allele count: 3
allele frequency: 2.498001598721023e-5
allele num: 120096
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1517-38A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1574-38A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000483516
  gene symbol: OPA1
  hgvsc: ENST00000483516.1:n.15-38A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1571-38A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1682-38A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1628-38A>C
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1520-38A>C
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4951
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

3-193363485-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363485
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363485
    reference: chr 3
allele count: 11
allele frequency: 9.158271584380984e-5
allele num: 120110
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1574-32T>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1517-32T>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000483516
  gene symbol: OPA1
  hgvsc: ENST00000483516.1:n.15-32T>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1571-32T>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1520-32T>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1682-32T>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1628-32T>G
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

3-193363487-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363487
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363487
    reference: chr 3
allele count: 1
allele frequency: 8.324315325064513e-6
allele num: 120130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1574-30G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000483516
  gene symbol: OPA1
  hgvsc: ENST00000483516.1:n.15-30G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1520-30G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1517-30G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1571-30G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1628-30G>A
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1682-30G>A
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4951
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4455
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum

3-193363492-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363492
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363492
    reference: chr 3
allele count: 2
allele frequency: 1.664530519167069e-5
allele num: 120154
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000483516
  gene symbol: OPA1
  hgvsc: ENST00000483516.1:n.15-25A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1517-25A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1574-25A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1682-25A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1571-25A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1520-25A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1628-25A>G
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

3-193363494-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363494
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363494
    reference: chr 3
allele count: 1
allele frequency: 8.321544478655239e-6
allele num: 120170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1517-23A>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000483516
  gene symbol: OPA1
  hgvsc: ENST00000483516.1:n.15-23A>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1574-23A>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1682-23A>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1571-23A>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1628-23A>T
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1520-23A>T
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD

3-193363496-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363496
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363496
    reference: chr 3
allele count: 1
allele frequency: 8.322929671244279e-6
allele num: 120150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000483516
  gene symbol: OPA1
  hgvsc: ENST00000483516.1:n.15-21T>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1628-21T>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1574-21T>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1517-21T>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1682-21T>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1520-21T>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1571-21T>G
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4951
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-193363499-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363499
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363498
    reference: chr 3
allele count: 19
allele frequency: 1.581040824138333e-4
allele num: 120174
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1628-16delC
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1520-16delC
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1682-16delC
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1574-16delC
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000483516
  gene symbol: OPA1
  hgvsc: ENST00000483516.1:n.15-16delC
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1571-16delC
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1517-16delC
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4455
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: AC
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

3-193363502-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 193363502
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 193363502
    reference: chr 3
allele count: 1
allele frequency: 8.321405984755183e-6
allele num: 120172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354429
  ensembl transcript: ENST00000361828
  gene symbol: OPA1
  hgvsc: ENST00000361828.2:c.1571-15A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355311
  ensembl transcript: ENST00000361715
  gene symbol: OPA1
  hgvsc: ENST00000361715.2:c.1574-15A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl transcript: ENST00000483516
  gene symbol: OPA1
  hgvsc: ENST00000483516.1:n.15-15A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000355324
  ensembl transcript: ENST00000361510
  gene symbol: OPA1
  hgvsc: ENST00000361510.2:c.1682-15A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000376233
  ensembl transcript: ENST00000392438
  gene symbol: OPA1
  hgvsc: ENST00000392438.3:c.1517-15A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354681
  ensembl transcript: ENST00000361908
  gene symbol: OPA1
  hgvsc: ENST00000361908.3:c.1628-15A>G
  variant of: http://identifiers.org/hgnc/8140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198836
  ensembl protein: ENSP00000354781
  ensembl transcript: ENST00000361150
  gene symbol: OPA1
  hgvsc: ENST00000361150.2:c.1520-15A>G
  variant of: http://identifiers.org/hgnc/8140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4954
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 7869
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4589
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8036
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2623
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.418452808258982e-5
allele num: 58506
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9332
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15094
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

FS
type: SiteQuality
SIO_000300: 3.912e0

MQRankSum
type: SiteQuality
SIO_000300: -8.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e-1

DP
type: SiteQuality
SIO_000300: 1.338834e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

GenotypeQuality
all individuals: 3964
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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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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bin: 8.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7372
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14960
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57350
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.18e0

VQSLOD
type: SiteQuality
SIO_000300: -2.816e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

DP
type: SiteQuality
SIO_000300: 1.324496e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56442
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.775171065493646e-5
allele num: 10230
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7254
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-1

DP
type: SiteQuality
SIO_000300: 1.31894e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.707e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 14
allele frequency: 1.941747572815534e-3
allele num: 7210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9060
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14796
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

DP
type: SiteQuality
SIO_000300: 1.317975e6

QD
type: SiteQuality
SIO_000300: 1.552e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607458607940846e-5
allele num: 62210
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8082
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.693733e6

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 1.345e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 5.82e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.294e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

GenotypeQuality
all individuals: 1529
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9590
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8082
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.243756243756244e-5
allele num: 16016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62234
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.211e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.634e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.59e-1

DP
type: SiteQuality
SIO_000300: 1.694825e6

QD
type: SiteQuality
SIO_000300: 1.048e1

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16022
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11142
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.604209445585216e-5
allele num: 62336
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

DP
type: SiteQuality
SIO_000300: 1.723091e6

QD
type: SiteQuality
SIO_000300: 1.86e1

VQSLOD
type: SiteQuality
SIO_000300: -8.378e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.779359430604982e-4
allele num: 11240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63104
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.123e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.805497e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.588e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.023751023751024e-4
allele num: 9768
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63310
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.782e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.04e-1

DP
type: SiteQuality
SIO_000300: 1.817522e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.167999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

QD
type: SiteQuality
SIO_000300: 6.14e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1671
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GenotypeQuality
all individuals: 350
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.576491360827343e-5
allele num: 63432
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.33e0

QD
type: SiteQuality
SIO_000300: 1.044e1

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.906e1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.045e-1

DP
type: SiteQuality
SIO_000300: 1.822554e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.101e0

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
all individuals: 346
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GenotypeQuality
all individuals: 2439
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16122
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.570598397989634e-4
allele num: 63670
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.834538e6

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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Other
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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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South Asian
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allele frequency: 6.194251734390486e-5
allele num: 16144
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FS
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ReadPosRankSum
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QD
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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Latino
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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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South 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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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.563477173233271e-5
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10028
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Latino
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allele frequency: 8.773469029654326e-5
allele num: 11398
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64768
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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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BaseQRankSum
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FS
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VQSLOD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6550
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 2.625131256562828e-4
allele num: 11428
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65302
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MQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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QD
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BaseQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 7.64e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 10402
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8628
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66638
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South Asian
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allele frequency: 0.0e0
allele num: 16496
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

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

East Asian
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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Latino
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Other
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DP
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VQSLOD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele num: 6608
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South Asian
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Latino
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African
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European (Non-Finnish)
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East Asian
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Other
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FS
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VQSLOD
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DP
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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African
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Latino
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Other
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QD
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VQSLOD
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MQ
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DP
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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FS
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BaseQRankSum
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MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28145
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2884
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 9.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.694e1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.92307e6

GenotypeQuality
all individuals: 2880
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12572
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.926e1

VQSLOD
type: SiteQuality
SIO_000300: -6.725e-1

FS
type: SiteQuality
SIO_000300: 1.425e0

MQRankSum
type: SiteQuality
SIO_000300: -1.11e0

DP
type: SiteQuality
SIO_000300: 1.923823e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.156e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.128e0

QD
type: SiteQuality
SIO_000300: 1.086e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28088
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

QD
type: SiteQuality
SIO_000300: 1.001e1

FS
type: SiteQuality
SIO_000300: 3.655e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 1.924294e6

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28081
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e0

QD
type: SiteQuality
SIO_000300: 1.503e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.924504e6

FS
type: SiteQuality
SIO_000300: 5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.31e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

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

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3106
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 5.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e0

VQSLOD
type: SiteQuality
SIO_000300: 8.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.924504e6

QD
type: SiteQuality
SIO_000300: 1.503e1

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3106
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.882e0

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

QD
type: SiteQuality
SIO_000300: 1.426e1

MQ
type: SiteQuality
SIO_000300: 5.917e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

DP
type: SiteQuality
SIO_000300: 1.924498e6

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 3
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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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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1434
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

VQSLOD
type: SiteQuality
SIO_000300: 5.69e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

FS
type: SiteQuality
SIO_000300: 2.83e0

MQRankSum
type: SiteQuality
SIO_000300: 9.07e-1

DP
type: SiteQuality
SIO_000300: 1.924736e6

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.905e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.0e-3

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

FS
type: SiteQuality
SIO_000300: 3.651e0

VQSLOD
type: SiteQuality
SIO_000300: -4.28e-2

QD
type: SiteQuality
SIO_000300: 1.184e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.924774e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
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allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 6.945e0

VQSLOD
type: SiteQuality
SIO_000300: 6.22e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.924996e6

MQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.04e-1

QD
type: SiteQuality
SIO_000300: 1.158e1

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: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6465
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1402
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variant carriers: 0

GenotypeQuality
all individuals: 3849
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variant carriers: 0

GenotypeQuality
all individuals: 2827
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519018106695832e-5
allele num: 65832
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.050627e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.595e0

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

FS
type: SiteQuality
SIO_000300: 8.0404e1

QD
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

MQ
type: SiteQuality
SIO_000300: 5.931e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.376e0

VQSLOD
type: SiteQuality
SIO_000300: -3.235e1

GenotypeQuality
all individuals: 169
bin: 2.25e1
variant carriers: 29

GenotypeQuality
all individuals: 121
bin: 7.5e0
variant carriers: 40

GenotypeQuality
all individuals: 87
bin: 1.25e1
variant carriers: 22

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 20

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 17

GenotypeQuality
all individuals: 12401
bin: 9.75e1
variant carriers: 364

GenotypeQuality
all individuals: 6465
bin: 6.75e1
variant carriers: 12

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 20

GenotypeQuality
all individuals: 3849
bin: 7.75e1
variant carriers: 11

GenotypeQuality
all individuals: 94
bin: 1.75e1
variant carriers: 19

GenotypeQuality
all individuals: 27199
bin: 6.25e1
variant carriers: 10

Other
type: Population
allele count: 6
allele frequency: 6.63716814159292e-3
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.329004329004329e-4
allele num: 11550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 32
allele frequency: 4.970487729108419e-3
allele num: 6438
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.958942240779402e-4
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 396
allele frequency: 6.015311702515494e-3
allele num: 65832
num of homozygotes: 0

African
type: Population
allele count: 189
allele frequency: 1.888489208633094e-2
allele num: 10008
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.376e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.595e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

DP
type: SiteQuality
SIO_000300: 2.050627e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

FS
type: SiteQuality
SIO_000300: 8.0404e1

VQSLOD
type: SiteQuality
SIO_000300: -3.235e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

QD
type: SiteQuality
SIO_000300: 1.23e0

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

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1865
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3085
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13389
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.26e-1

FS
type: SiteQuality
SIO_000300: 8.021000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.493e1

DP
type: SiteQuality
SIO_000300: 1.984589e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.035e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6542
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1863
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2840
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3078
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 2.848e1

MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
SIO_000300: -2.521e0

DP
type: SiteQuality
SIO_000300: 1.983719e6

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 8.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.358e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 135
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27380
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3906
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13395
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1863
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999130252226854e-5
allele num: 66686
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.983623e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.699e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 3.114e0

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.392e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 1.131e1

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1863
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

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

GenotypeQuality
all individuals: 6531
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -7.0e-3

FS
type: SiteQuality
SIO_000300: 6.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.393e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.89e-1

DP
type: SiteQuality
SIO_000300: 1.982632e6

MQRankSum
type: SiteQuality
SIO_000300: 1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.167e1

GenotypeQuality
all individuals: 118
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2827
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 13395
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3076
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3899
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.92e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e0

DP
type: SiteQuality
SIO_000300: 1.978318e6

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

VQSLOD
type: SiteQuality
SIO_000300: -1.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.287e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.044e1

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1422
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variant carriers: 0

GenotypeQuality
all individuals: 3077
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variant carriers: 0

GenotypeQuality
all individuals: 6504
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2825
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.33e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.057e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

DP
type: SiteQuality
SIO_000300: 1.978084e6

GenotypeQuality
all individuals: 2819
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
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GenotypeQuality
all individuals: 13415
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3892
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3078
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

QD
type: SiteQuality
SIO_000300: 1.187e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

FS
type: SiteQuality
SIO_000300: 3.149e0

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e-1

DP
type: SiteQuality
SIO_000300: 1.978896e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

GenotypeQuality
all individuals: 3892
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 26649
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variant carriers: 0

GenotypeQuality
all individuals: 3078
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13415
bin: 9.75e1
variant carriers: 30

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.00294144130624e-5
allele num: 66634
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.594706798131811e-4
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 1.663405088062622e-3
allele num: 10220
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.815305885089556e-4
allele num: 8598
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

FS
type: SiteQuality
SIO_000300: 3.149e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

QD
type: SiteQuality
SIO_000300: 1.187e1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

DP
type: SiteQuality
SIO_000300: 1.978896e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

GenotypeQuality
all individuals: 1247
bin: 8.75e1
variant carriers: 10

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19322
bin: 9.75e1
variant carriers: 7550

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 5677
bin: 6.75e1
variant carriers: 7

GenotypeQuality
all individuals: 446
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1627
bin: 9.25e1
variant carriers: 15

GenotypeQuality
all individuals: 2682
bin: 8.25e1
variant carriers: 10

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 6077
allele frequency: 9.122706938481401e-2
allele num: 66614
num of homozygotes: 299

South Asian
type: Population
allele count: 491
allele frequency: 2.975396921585263e-2
allele num: 16502
num of homozygotes: 10

European (Finnish)
type: Population
allele count: 768
allele frequency: 1.162931556632344e-1
allele num: 6604
num of homozygotes: 41

Latino
type: Population
allele count: 338
allele frequency: 2.923369659228507e-2
allele num: 11562
num of homozygotes: 6

Other
type: Population
allele count: 73
allele frequency: 8.039647577092511e-2
allele num: 908
num of homozygotes: 4

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

African
type: Population
allele count: 247
allele frequency: 2.42156862745098e-2
allele num: 10200
num of homozygotes: 3

DP
type: SiteQuality
SIO_000300: 2.260135e6

QD
type: SiteQuality
SIO_000300: 1.331e1

FS
type: SiteQuality
SIO_000300: 1.344e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.54e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
all individuals: 335
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 129
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3852
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2671
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2071
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502448991856726e-5
allele num: 66558
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

DP
type: SiteQuality
SIO_000300: 2.095597e6

QD
type: SiteQuality
SIO_000300: 1.373e1

FS
type: SiteQuality
SIO_000300: 7.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

GenotypeQuality
all individuals: 1503
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3851
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15778
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2071
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 4.75e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005259203606311e-5
allele num: 66550
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

QD
type: SiteQuality
SIO_000300: 8.470000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 2.095109e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.298e0

MQ
type: SiteQuality
SIO_000300: 4.239e1

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2642
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15782
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 9.25e1
variant carriers: 1

African
type: Population
allele count: 5
allele frequency: 5.004003202562049e-4
allele num: 9992
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.091918e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.481e0

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

FS
type: SiteQuality
SIO_000300: 2.751e0

GenotypeQuality
all individuals: 6518
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10981
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5752
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.071251035625518e-5
allele num: 48280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.336e1

VQSLOD
type: SiteQuality
SIO_000300: 5.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.129453e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

GenotypeQuality
all individuals: 1071
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4947
bin: 9.75e1
variant carriers: 22

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5752
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.50755014649538e-4
allele num: 8874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 3.52112676056338e-4
allele num: 48280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.336e1

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.129453e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

GenotypeQuality
all individuals: 2268
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7767
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2120
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13824
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.118318049653321e-4
allele num: 8942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7928
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.144404e6

QD
type: SiteQuality
SIO_000300: 1.156e1

MQ
type: SiteQuality
SIO_000300: 5.901e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.053e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

MQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

GenotypeQuality
all individuals: 11851
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7635
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2171
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11275
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4929
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48636
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.592356687898089e-4
allele num: 6280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8960
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5760
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.155432e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

GenotypeQuality
all individuals: 1810
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12066
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7530
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4929
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2182
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.596424010217114e-4
allele num: 6264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8946
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5766
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.647e1

MQ
type: SiteQuality
SIO_000300: 5.898e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.134e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

DP
type: SiteQuality
SIO_000300: 1.162074e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

GenotypeQuality
all individuals: 228
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4937
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.974878766197631e-5
allele num: 50316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14064
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.849e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

DP
type: SiteQuality
SIO_000300: 1.25826e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 724
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34634
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4945
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.508648819339672e-5
allele num: 57002
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.95e-1

FS
type: SiteQuality
SIO_000300: 3.231e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

DP
type: SiteQuality
SIO_000300: 1.430121e6

MQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.551e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.863e1

QD
type: SiteQuality
SIO_000300: 1.351e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.055e0

GenotypeQuality
all individuals: 1049
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8960
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.724851662757003e-5
allele num: 57976
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15126
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

FS
type: SiteQuality
SIO_000300: 1.674e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

QD
type: SiteQuality
SIO_000300: 1.254e1

DP
type: SiteQuality
SIO_000300: 1.447577e6

VQSLOD
type: SiteQuality
SIO_000300: -3.279e-1

MQ
type: SiteQuality
SIO_000300: 5.494e1

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: 9.75e1
variant carriers: 1

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
all individuals: 810
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.083188908145581e-4
allele num: 9232
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8052
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 8.69e0

FS
type: SiteQuality
SIO_000300: 5.599e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.301e0

VQSLOD
type: SiteQuality
SIO_000300: -7.793e-1

DP
type: SiteQuality
SIO_000300: 1.493748e6

MQRankSum
type: SiteQuality
SIO_000300: -1.261e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.502e0

GenotypeQuality
all individuals: 1066
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 524
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10944
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.432522835456066e-5
allele num: 15546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8070
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60708
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 5.33e-1

FS
type: SiteQuality
SIO_000300: 2.229e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.127e0

DP
type: SiteQuality
SIO_000300: 1.498769e6

QD
type: SiteQuality
SIO_000300: 1.386e1

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.604312391708914e-5
allele num: 62332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.074e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 1.527551e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

GenotypeQuality
all individuals: 1192
bin: 7.25e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 814
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11260
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.194457716196847e-4
allele num: 8372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.569021244547651e-5
allele num: 63734
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.551817e6

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

FS
type: SiteQuality
SIO_000300: 2.336e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

QD
type: SiteQuality
SIO_000300: 1.436e1

GenotypeQuality
all individuals: 138
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variant carriers: 0

GenotypeQuality
all individuals: 283
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 814
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.214267959234402e-5
allele num: 16092
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.44e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.206e0

DP
type: SiteQuality
SIO_000300: 1.554894e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.52e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

FS
type: SiteQuality
SIO_000300: 1.845e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.656e0

GenotypeQuality
all individuals: 4948
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 815
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529145513487063e-5
allele num: 65396
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.04e-1

QD
type: SiteQuality
SIO_000300: 1.407e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 1.583657e6

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1080
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variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520218911523259e-5
allele num: 65780
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9848
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.764e0

DP
type: SiteQuality
SIO_000300: 1.593015e6

MQ
type: SiteQuality
SIO_000300: 5.88e1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1073
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
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African
type: Population
allele count: 3
allele frequency: 3.049400284610693e-4
allele num: 9838
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076810889645114e-5
allele num: 16456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 174
allele frequency: 2.641005403436343e-3
allele num: 65884
num of homozygotes: 1

Latino
type: Population
allele count: 12
allele frequency: 1.045114091621669e-3
allele num: 11482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.38e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 815
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GenotypeQuality
all individuals: 341
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.710801393728223e-5
allele num: 11480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.500000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.612e0

DP
type: SiteQuality
SIO_000300: 1.598735e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.005e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.26e-1

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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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 264
bin: 5.25e1
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GenotypeQuality
all individuals: 4377
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.214624073849144e-4
allele num: 16466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65910
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.599881e6

FS
type: SiteQuality
SIO_000300: 8.382999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -2.021e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.5e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 2.411e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515427047341941e-5
allele num: 65988
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.214329083181542e-4
allele num: 16470
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.299e-1

DP
type: SiteQuality
SIO_000300: 1.602732e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.433e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.71e0

QD
type: SiteQuality
SIO_000300: 1.789e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.283e0

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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variant carriers: 1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66132
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.66e-1

QD
type: SiteQuality
SIO_000300: 1.532e1

FS
type: SiteQuality
SIO_000300: 2.001e0

VQSLOD
type: SiteQuality
SIO_000300: 4.04e-1

DP
type: SiteQuality
SIO_000300: 1.60839e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.616e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.34e-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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.043574169763998e-5
allele num: 66186
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

QD
type: SiteQuality
SIO_000300: 1.823e1

FS
type: SiteQuality
SIO_000300: 2.611e0

MQ
type: SiteQuality
SIO_000300: 6.04e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.610751e6

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

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
type: Population
allele count: 3
allele frequency: 1.819946614899296e-4
allele num: 16484
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.02e0

MQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

QD
type: SiteQuality
SIO_000300: 1.505e1

VQSLOD
type: SiteQuality
SIO_000300: -1.673e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-2

DP
type: SiteQuality
SIO_000300: 1.61112e6

FS
type: SiteQuality
SIO_000300: 1.2242e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.23e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.510163399679845e-4
allele num: 66218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.0e-3

FS
type: SiteQuality
SIO_000300: 5.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.973e0

DP
type: SiteQuality
SIO_000300: 1.611753e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.377e1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66226
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.019688368160406e-5
allele num: 66232
num of homozygotes: 0

South Asian
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African
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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DP
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.92e1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66246
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11524
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9778
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1443
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 8.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509707418702255e-5
allele num: 66238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 1.61148e6

FS
type: SiteQuality
SIO_000300: 4.968e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

MQRankSum
type: SiteQuality
SIO_000300: -6.39e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.132e1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4972
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 1437
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1064
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 18
allele frequency: 1.840114496013085e-3
allele num: 9782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 1.205e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.613151e6

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0