19-17338607-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338607
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338607
    reference: chr 19
allele count: 207
allele frequency: 1.725690276110444e-3
allele num: 119952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-458G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.448-42G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.582-42G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-458G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.453-42G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.419-42G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.285-42G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.238-42G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.337-42G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.535-42G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-458G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-458G>T
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8843
  bin: 2.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 12869
  bin: 3.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15501
  bin: 2.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 3.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 1.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
num of homozygotes: 2
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

19-17338608-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338608
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338608
    reference: chr 19
allele count: 2
allele frequency: 1.66716681671168e-5
allele num: 119964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-457G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.337-41G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-457G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.448-41G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.238-41G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.285-41G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-457G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.453-41G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.535-41G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.419-41G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-457G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.582-41G>A
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

19-17338609-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338609
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338609
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 119970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.448-40G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.535-40G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.582-40G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.453-40G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-456G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.419-40G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-456G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.285-40G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-456G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-456G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.337-40G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.238-40G>T
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15597
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

19-17338622-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338622
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338622
    reference: chr 19
allele count: 1
allele frequency: 8.316561600771776e-6
allele num: 120242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-443A>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.419-27A>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-443A>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.448-27A>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.337-27A>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.285-27A>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.582-27A>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-443A>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.453-27A>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-443A>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.238-27A>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.535-27A>G
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16278
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13086
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/19-17338624-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338624
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338624
    reference: chr 19
allele count: 2
allele frequency: 1.662703889064397e-5
allele num: 120286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-441A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.535-25A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.238-25A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-441A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.582-25A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-441A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.448-25A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-441A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.453-25A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.419-25A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.337-25A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.285-25A>C
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13095
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-17338625-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338625
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338625
    reference: chr 19
allele count: 78
allele frequency: 6.482605009890129e-4
allele num: 120322
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.453-24C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.337-24C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.535-24C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.448-24C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.582-24C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-440C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-440C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-440C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.285-24C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-440C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.419-24C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.238-24C>G
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10651
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 16448
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13120
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7858
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

19-17338627-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338627
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338627
    reference: chr 19
allele count: 2
allele frequency: 1.661515967168445e-5
allele num: 120372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.582-22C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-438C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.453-22C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.535-22C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.448-22C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-438C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-438C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.285-22C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.419-22C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.238-22C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.337-22C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-438C>G
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

19-17338627-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338627
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338627
    reference: chr 19
allele count: 7
allele frequency: 5.815305885089556e-5
allele num: 120372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.535-22C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.453-22C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.285-22C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-438C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.419-22C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-438C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-438C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.582-22C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.238-22C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.448-22C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-438C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.337-22C>T
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16571
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/19-17338641-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338641
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338641
    reference: chr 19
allele count: 1
allele frequency: 8.273899157717065e-6
allele num: 120862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-424C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.453-8C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.448-8C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.535-8C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-424C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.582-8C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.238-8C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-424C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.419-8C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-424C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.337-8C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.285-8C>A
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.453-8C>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-17338641-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338641
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338641
    reference: chr 19
allele count: 1
allele frequency: 8.273899157717065e-6
allele num: 120862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.419-8C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-424C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-424C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-424C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.238-8C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.448-8C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.582-8C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-424C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.453-8C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.535-8C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.285-8C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.337-8C>T
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.453-8C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

19-17338644-GGTAGTAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338644
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338637
    reference: chr 19
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.535-1_540delGTAAGTA
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.285-1_290delGTAAGTA
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.582-1_587delGTAAGTA
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.238-1_243delGTAAGTA
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.448-1_453delGTAAGTA
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.419-1_424delGTAAGTA
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.453-1_458delGTAAGTA
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.337-1_342delGTAAGTA
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.453-1_458delGTAAGTA
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: GGTAGTAA
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

19-17338648-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338648
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338648
    reference: chr 19
allele count: 1
allele frequency: 8.26405302216419e-6
allele num: 121006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.535-1G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-417G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.419-1G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.285-1G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.453-1G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.448-1G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-417G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.337-1G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.582-1G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.238-1G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-417G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-417G>A
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.453-1G>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

19-17338657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338657
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338657
    reference: chr 19
allele count: 2
allele frequency: 1.650955077512341e-5
allele num: 121142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.345C>T
  hgvsp: ENSP00000471311.1:p.Pro116Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.461C>T
  hgvsp: ENSP00000215061.3:p.Pro154Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-408C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-408C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.543C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-408C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.246C>T
  hgvsp: ENSP00000470258.1:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-408C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.293C>T
  hgvsp: ENSP00000470270.1:p.Pro98Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.456C>T
  hgvsp: ENSP00000469261.1:p.Pro153Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.427C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.590C>T
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro154Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

19-17338658-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338658
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338658
    reference: chr 19
allele count: 5
allele frequency: 4.126297720633139e-5
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.294G>A
  hgvsp: ENST00000597836.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-407G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.346G>A
  hgvsp: ENST00000598068.1:c.346G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.428G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-407G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.457G>A
  hgvsp: ENST00000600232.1:c.457G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.544G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.462G>A
  hgvsp: ENST00000215061.4:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.247G>A
  hgvsp: ENSP00000470258.1:p.Arg83His
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-407G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-407G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.591G>A
  variant of: http://identifiers.org/hgnc/26221
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13407
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg83His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-17338661-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338661
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338661
    reference: chr 19
allele count: 2
allele frequency: 1.650192247396822e-5
allele num: 121198
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.465A>C
  hgvsp: ENST00000215061.4:c.465A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-404A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.460A>C
  hgvsp: ENST00000600232.1:c.460A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-404A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.547A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.349A>C
  hgvsp: ENST00000598068.1:c.349A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.431A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.250A>C
  hgvsp: ENSP00000470258.1:p.Gln84Pro
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.594A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-404A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.297A>C
  hgvsp: ENST00000597836.1:c.297A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-404A>C
  variant of: http://identifiers.org/hgnc/26221
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln84Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

19-17338662-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338662
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338662
    reference: chr 19
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.251G>T
  hgvsp: ENSP00000470258.1:p.Gln84His
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.548G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.298G>T
  hgvsp: ENSP00000470270.1:p.Val100Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.466G>T
  hgvsp: ENSP00000215061.3:p.Val156Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-403G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.595G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.461G>T
  hgvsp: ENSP00000469261.1:p.Val155Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.350G>T
  hgvsp: ENSP00000471311.1:p.Val118Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-403G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-403G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.432G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-403G>T
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17734
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val156Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-17338674-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338674
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338674
    reference: chr 19
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.444A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.607A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.310A>C
  hgvsp: ENST00000597836.1:c.310A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-391A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.560A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.478A>C
  hgvsp: ENST00000215061.4:c.478A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*9A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-391A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-391A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.362A>C
  hgvsp: ENST00000598068.1:c.362A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.473A>C
  hgvsp: ENST00000600232.1:c.473A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-391A>C
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg160Arg
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

19-17338680-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338680
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338680
    reference: chr 19
allele count: 10
allele frequency: 8.245382585751979e-5
allele num: 121280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-385C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.368C>T
  hgvsp: ENSP00000471311.1:p.Arg124Trp
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.316C>T
  hgvsp: ENSP00000470270.1:p.Arg106Trp
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.613C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-385C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.450C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.566C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.484C>T
  hgvsp: ENSP00000215061.3:p.Arg162Trp
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.479C>T
  hgvsp: ENSP00000469261.1:p.Arg161Trp
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*15C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-385C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-385C>T
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13397
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Arg162Trp
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

19-17338681-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338681
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338681
    reference: chr 19
allele count: 2
allele frequency: 1.648940555692967e-5
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.451G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-384G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.567G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.485G>A
  hgvsp: ENSP00000215061.3:p.Arg162Gln
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-384G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.369G>A
  hgvsp: ENSP00000471311.1:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.317G>A
  hgvsp: ENSP00000470270.1:p.Arg106Gln
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.480G>A
  hgvsp: ENSP00000469261.1:p.Arg161Gln
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*16G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-384G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-384G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.614G>A
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg162Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-17338686-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338686
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338686
    reference: chr 19
allele count: 4
allele frequency: 3.29777235477435e-5
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-379C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.456C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.572C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.322C>T
  hgvsp: ENSP00000470270.1:p.Arg108Cys
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.374C>T
  hgvsp: ENSP00000471311.1:p.Arg126Cys
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.619C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-379C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.490C>T
  hgvsp: ENSP00000215061.3:p.Arg164Cys
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.485C>T
  hgvsp: ENSP00000469261.1:p.Arg163Cys
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-379C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-379C>T
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17820
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg164Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

19-17338687-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338687
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338687
    reference: chr 19
allele count: 2
allele frequency: 1.64883180266781e-5
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.323G>A
  hgvsp: ENSP00000470270.1:p.Arg108His
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-378G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.620G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.486G>A
  hgvsp: ENSP00000469261.1:p.Arg163His
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-378G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.491G>A
  hgvsp: ENSP00000215061.3:p.Arg164His
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.457G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.375G>A
  hgvsp: ENSP00000471311.1:p.Arg126His
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.573G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-378G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*22G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-378G>A
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg164His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

19-17338687-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338687
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338687
    reference: chr 19
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.323G>T
  hgvsp: ENSP00000470270.1:p.Arg108Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.486G>T
  hgvsp: ENSP00000469261.1:p.Arg163Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.620G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.573G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-378G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.491G>T
  hgvsp: ENSP00000215061.3:p.Arg164Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-378G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.457G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*22G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-378G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-378G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.375G>T
  hgvsp: ENSP00000471311.1:p.Arg126Leu
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg164Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

19-17338695-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338695
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338695
    reference: chr 19
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.581G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.628G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.494G>T
  hgvsp: ENSP00000469261.1:p.Ala166Ser
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.465G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-370G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-370G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.383G>T
  hgvsp: ENSP00000471311.1:p.Ala129Ser
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*30G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.499G>T
  hgvsp: ENSP00000215061.3:p.Ala167Ser
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-370G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.331G>T
  hgvsp: ENSP00000470270.1:p.Ala111Ser
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-370G>T
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala167Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

19-17338705-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338705
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338705
    reference: chr 19
allele count: 2
allele frequency: 1.648478454386601e-5
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.393A>G
  hgvsp: ENSP00000471311.1:p.Gln132Arg
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.638A>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-360A>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.591A>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-360A>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.504A>G
  hgvsp: ENSP00000469261.1:p.Gln169Arg
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.341A>G
  hgvsp: ENSP00000470270.1:p.Gln114Arg
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*40A>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-360A>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-360A>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.509A>G
  hgvsp: ENSP00000215061.3:p.Gln170Arg
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.475A>G
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13405
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln170Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

19-17338706-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338706
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338706
    reference: chr 19
allele count: 5
allele frequency: 4.121128200056047e-5
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.394G>A
  hgvsp: ENST00000598068.1:c.394G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.476G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-359G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-359G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.510G>A
  hgvsp: ENST00000215061.4:c.510G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.505G>A
  hgvsp: ENST00000600232.1:c.505G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*41G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-359G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.342G>A
  hgvsp: ENST00000597836.1:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-359G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.592G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.639G>A
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln170Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

19-17338709-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338709
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338709
    reference: chr 19
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.397C>G
  hgvsp: ENSP00000471311.1:p.Asp133Glu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.642C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.345C>G
  hgvsp: ENSP00000470270.1:p.Asp115Glu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.479C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.595C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*44C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-356C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-356C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.513C>G
  hgvsp: ENSP00000215061.3:p.Asp171Glu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.508C>G
  hgvsp: ENSP00000469261.1:p.Asp170Glu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-356C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-356C>G
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp171Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

19-17338712-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338712
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338712
    reference: chr 19
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.598G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-353G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.348G>A
  hgvsp: ENST00000597836.1:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.400G>A
  hgvsp: ENST00000598068.1:c.400G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.482G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-353G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-353G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.511G>A
  hgvsp: ENST00000600232.1:c.511G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-353G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*47G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.516G>A
  hgvsp: ENST00000215061.4:c.516G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.645G>A
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gln172Gln
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

19-17338712-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338712
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338712
    reference: chr 19
allele count: 4
allele frequency: 3.296956908773203e-5
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.348G>C
  hgvsp: ENSP00000470270.1:p.Gln116His
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.598G>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.645G>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-353G>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.482G>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.516G>C
  hgvsp: ENSP00000215061.3:p.Gln172His
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.511G>C
  hgvsp: ENSP00000469261.1:p.Gln171His
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-353G>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.400G>C
  hgvsp: ENSP00000471311.1:p.Gln134His
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*47G>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-353G>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-353G>C
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln172His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

19-17338715-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338715
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338715
    reference: chr 19
allele count: 6
allele frequency: 4.945679948564928e-5
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-350C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-350C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.648C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.351C>T
  hgvsp: ENST00000597836.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.485C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.403C>T
  hgvsp: ENST00000598068.1:c.403C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.601C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-350C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*50C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.514C>T
  hgvsp: ENST00000600232.1:c.514C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.519C>T
  hgvsp: ENST00000215061.4:c.519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-350C>T
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17854
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr173Tyr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-17338716-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338716
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338716
    reference: chr 19
allele count: 2
allele frequency: 1.648532805802836e-5
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.649G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.515G>A
  hgvsp: ENSP00000469261.1:p.Gly173Arg
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.352G>A
  hgvsp: ENSP00000470270.1:p.Gly118Arg
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.520G>A
  hgvsp: ENSP00000215061.3:p.Gly174Arg
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.404G>A
  hgvsp: ENSP00000471311.1:p.Gly136Arg
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-349G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-349G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-349G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.486G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*51G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-349G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.602G>A
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly174Arg
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-17338716-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338716
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338716
    reference: chr 19
allele count: 86
allele frequency: 7.088691064952192e-4
allele num: 121320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.352G>C
  hgvsp: ENSP00000470270.1:p.Gly118Arg
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.649G>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.486G>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.404G>C
  hgvsp: ENSP00000471311.1:p.Gly136Arg
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.515G>C
  hgvsp: ENSP00000469261.1:p.Gly173Arg
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-349G>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-349G>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.602G>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-349G>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.520G>C
  hgvsp: ENSP00000215061.3:p.Gly174Arg
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*51G>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-349G>C
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
hgvs: p.Gly174Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-17338717-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338717
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338717
    reference: chr 19
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.650G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-348G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-348G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*52G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-348G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.603G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.353G>T
  hgvsp: ENSP00000470270.1:p.Gly118Val
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.521G>T
  hgvsp: ENSP00000215061.3:p.Gly174Val
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.405G>T
  hgvsp: ENSP00000471311.1:p.Gly136Val
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.516G>T
  hgvsp: ENSP00000469261.1:p.Gly173Val
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.487G>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-348G>T
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly174Val
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

19-17338722-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338722
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338722
    reference: chr 19
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.358T>A
  hgvsp: ENSP00000470270.1:p.Phe120Ile
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.521T>A
  hgvsp: ENSP00000469261.1:p.Phe175Ile
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-343T>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-343T>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-343T>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.608T>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.655T>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-343T>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.526T>A
  hgvsp: ENSP00000215061.3:p.Phe176Ile
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.410T>A
  hgvsp: ENSP00000471311.1:p.Phe138Ile
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*57T>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.492T>A
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe176Ile
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

19-17338724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338724
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338724
    reference: chr 19
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-341C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-341C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*59C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.412C>T
  hgvsp: ENST00000598068.1:c.412C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.610C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-341C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.657C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.360C>T
  hgvsp: ENST00000597836.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-341C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.523C>T
  hgvsp: ENST00000600232.1:c.523C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.494C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.528C>T
  hgvsp: ENST00000215061.4:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe176Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

19-17338725-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338725
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338725
    reference: chr 19
allele count: 76
allele frequency: 6.265457543281121e-4
allele num: 121300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-340T>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.529T>C
  hgvsp: ENST00000215061.4:c.529T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.524T>C
  hgvsp: ENST00000600232.1:c.524T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.495T>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*60T>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-340T>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-340T>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.611T>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.361T>C
  hgvsp: ENST00000597836.1:c.361T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.413T>C
  hgvsp: ENST00000598068.1:c.413T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.658T>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-340T>C
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13397
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17830
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Leu177Leu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/19-17338738-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338738
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338738
    reference: chr 19
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-327A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-327A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.508A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.542A>C
  hgvsp: ENSP00000215061.3:p.His181Pro
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*73A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.671A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.374A>C
  hgvsp: ENSP00000470270.1:p.His125Pro
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.624A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.426A>C
  hgvsp: ENSP00000471311.1:p.His143Pro
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-327A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.537A>C
  hgvsp: ENSP00000469261.1:p.His180Pro
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-327A>C
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His181Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

19-17338738-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338738
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338738
    reference: chr 19
allele count: 2
allele frequency: 1.649321304283287e-5
allele num: 121262
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.542A>T
  hgvsp: ENSP00000215061.3:p.His181Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.671A>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-327A>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-327A>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.537A>T
  hgvsp: ENSP00000469261.1:p.His180Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.624A>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-327A>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.426A>T
  hgvsp: ENSP00000471311.1:p.His143Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.374A>T
  hgvsp: ENSP00000470270.1:p.His125Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*73A>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.508A>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-327A>T
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His181Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

19-17338739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338739
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338739
    reference: chr 19
allele count: 10
allele frequency: 8.247422680412371e-5
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.625C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-326C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.375C>T
  hgvsp: ENST00000597836.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.543C>T
  hgvsp: ENST00000215061.4:c.543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-326C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-326C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.509C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*74C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-326C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.538C>T
  hgvsp: ENST00000600232.1:c.538C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.672C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.427C>T
  hgvsp: ENST00000598068.1:c.427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His181His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/19-17338741-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338741
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338741
    reference: chr 19
allele count: 61
allele frequency: 5.031010820797044e-4
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-324A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.377A>C
  hgvsp: ENSP00000470270.1:p.Glu126Ala
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.540A>C
  hgvsp: ENSP00000469261.1:p.Glu181Ala
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-324A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.674A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*76A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.429A>C
  hgvsp: ENSP00000471311.1:p.Glu144Ala
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.545A>C
  hgvsp: ENSP00000215061.3:p.Glu182Ala
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-324A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.627A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-324A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.511A>C
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13391
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17795
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10991
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Glu182Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum

19-17338748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338748
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338748
    reference: chr 19
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.384G>A
  hgvsp: ENST00000597836.1:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.518G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.552G>A
  hgvsp: ENST00000215061.4:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-317G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-317G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.547G>A
  hgvsp: ENST00000600232.1:c.547G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000601576
  gene symbol: OCEL1
  hgvsc: ENST00000601576.1:n.634G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-317G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.436G>A
  hgvsp: ENST00000598068.1:c.436G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*83G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.681G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-317G>A
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly184Gly
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

19-17338753-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338753
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338753
    reference: chr 19
allele count: 2
allele frequency: 1.650028875505322e-5
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-312C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-312C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.441C>T
  hgvsp: ENSP00000471311.1:p.Ala148Val
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.552C>T
  hgvsp: ENSP00000469261.1:p.Ala185Val
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.686C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.557C>T
  hgvsp: ENSP00000215061.3:p.Ala186Val
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.523C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-312C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-312C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.389C>T
  hgvsp: ENSP00000470270.1:p.Ala130Val
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*88C>T
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala186Val
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

19-17338791-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338791
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338790
    reference: chr 19
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.593delC
  hgvsp: ENSP00000469261.1:p.Leu199CysfsTer22
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-271delC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-271delC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.430delC
  hgvsp: ENSP00000470270.1:p.Leu144CysfsTer22
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*129delC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-271delC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.598delC
  hgvsp: ENSP00000215061.3:p.Leu200CysfsTer22
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.482delC
  hgvsp: ENSP00000471311.1:p.Leu162CysfsTer22
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-271delC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.727delC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.564delC
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu200CysfsTer22
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: TC
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/19-17338798-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338798
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338798
    reference: chr 19
allele count: 3
allele frequency: 2.489667878305034e-5
allele num: 120498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-267C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.602C>A
  hgvsp: ENSP00000215061.3:p.Pro201His
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-267C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.597C>A
  hgvsp: ENSP00000469261.1:p.Pro200His
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.486C>A
  hgvsp: ENSP00000471311.1:p.Pro163His
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.568C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-267C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.731C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*133C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.434C>A
  hgvsp: ENSP00000470270.1:p.Pro145His
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-267C>A
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro201His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/19-17338802-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338802
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338802
    reference: chr 19
allele count: 240
allele frequency: 1.993421708362404e-3
allele num: 120396
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.606A>C
  hgvsp: ENST00000215061.4:c.606A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.438A>C
  hgvsp: ENST00000597836.1:c.438A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.572A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.735A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-263A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-263A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.601A>C
  hgvsp: ENST00000600232.1:c.601A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.490A>C
  hgvsp: ENST00000598068.1:c.490A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-263A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*137A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-263A>C
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13203
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17236
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 10306
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
hgvs: p.Pro202Pro
num of homozygotes: 2
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-17338811-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338811
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338811
    reference: chr 19
allele count: 1
allele frequency: 8.323068215867098e-6
allele num: 120148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-254C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.744C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.610C>A
  hgvsp: ENSP00000469261.1:p.Ser204Arg
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-254C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.615C>A
  hgvsp: ENSP00000215061.3:p.Ser205Arg
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*146C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.447C>A
  hgvsp: ENSP00000470270.1:p.Ser149Arg
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.499C>A
  hgvsp: ENSP00000471311.1:p.Ser167Arg
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.581C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-254C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-254C>A
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser205Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

19-17338839-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338839
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338839
    reference: chr 19
allele count: 1
allele frequency: 8.45337120443633e-6
allele num: 118296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-226C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.584+25C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.613+25C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*149+25C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-226C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-226C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-226C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.747+25C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.618+25C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.450+25C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.502+25C>T
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

19-17338842-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338842
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338842
    reference: chr 19
allele count: 1
allele frequency: 8.479318941102651e-6
allele num: 117934
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.618+28C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.502+28C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-223C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-223C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.613+28C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.450+28C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*149+28C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-223C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.747+28C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.584+28C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-223C>G
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

19-17338843-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338843
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338843
    reference: chr 19
allele count: 33
allele frequency: 2.799124637386127e-4
allele num: 117894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.502+29G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.584+29G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.618+29G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.450+29G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-222G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-222G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.613+29G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*149+29G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.747+29G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-222G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-222G>A
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14852
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7343
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12372
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
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: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

19-17338856-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338856
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338856
    reference: chr 19
allele count: 1
allele frequency: 8.571771442286263e-6
allele num: 116662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.450+42G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*149+42G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.618+42G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-209G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-209G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-209G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.613+42G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-209G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.584+42G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.747+42G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.502+42G>A
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7232
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

19-17338858-GGCCCGACCCAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338858
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338847
    reference: chr 19
allele count: 2
allele frequency: 1.721259273284335e-5
allele num: 116194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7810
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4559
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: GGCCCGACCCAA
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

19-17338859-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338859
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338860
    reference: chr 19
allele count: 1
allele frequency: 8.639756704451203e-6
allele num: 115744
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-203dupC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-203dupC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.613+48dupC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.618+48dupC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-203dupC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-203dupC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.502+48dupC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.450+48dupC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.584+48dupC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*149+48dupC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.747+48dupC
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/19-17338860-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338860
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338860
    reference: chr 19
allele count: 1
allele frequency: 8.634683797879321e-6
allele num: 115812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.613+46C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-205C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.747+46C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-205C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*149+46C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-205C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.618+46C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.450+46C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.584+46C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-205C>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.502+46C>A
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5351
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

19-17338861-CCGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338861
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338858
    reference: chr 19
allele count: 1
allele frequency: 8.670019074041962e-6
allele num: 115340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.584+49_584+51delGAC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-202_453-200delGAC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.618+49_618+51delGAC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.450+49_450+51delGAC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*149+49_*149+51delGAC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-202_43-200delGAC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-202_158-200delGAC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-202_599-200delGAC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.613+49_613+51delGAC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.747+49_747+51delGAC
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.502+49_502+51delGAC
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10475
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: CCGA
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

19-17338862-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338862
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338862
    reference: chr 19
allele count: 1
allele frequency: 8.6852298980354e-6
allele num: 115138
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.618+48C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-203C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*149+48C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-203C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.450+48C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-203C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-203C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.613+48C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.502+48C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.747+48C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.584+48C>G
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

19-17338863-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338863
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338863
    reference: chr 19
allele count: 10
allele frequency: 8.671071571024747e-5
allele num: 115326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.584+49G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-202G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-202G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*149+49G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.450+49G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.613+49G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.747+49G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-202G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.502+49G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.618+49G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-202G>A
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11720
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9067
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10373
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

19-17338866-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17338866
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17338866
    reference: chr 19
allele count: 1
allele frequency: 8.658008658008657e-6
allele num: 115500
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.747+52C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.613+52C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.450+52C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.502+52C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-199C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.618+52C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.584+52C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*149+52C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-199C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-199C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-199C>G
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7385
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

19-17339020-GAATTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17339020
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17339015
    reference: chr 19
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*150-42_*150-38delTTCAA
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.585-42_585-38delTTCAA
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.614-42_614-38delTTCAA
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.503-42_503-38delTTCAA
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.619-42_619-38delTTCAA
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-42_158-38delTTCAA
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.748-42_748-38delTTCAA
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-42_453-38delTTCAA
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.451-42_451-38delTTCAA
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-42_599-38delTTCAA
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-42_43-38delTTCAA
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5349
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9896
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
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: GAATTC
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

19-17339025-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17339025
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17339025
    reference: chr 19
allele count: 7920
allele frequency: 6.527329069690777e-2
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-40C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-40C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.619-40C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.585-40C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.451-40C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.614-40C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-40C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*150-40C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.503-40C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.748-40C>G
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-40C>G
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 6.75e1
  variant carriers: 319
genotype depth: GenotypeDepth
  all individuals: 11589
  bin: 9.75e1
  variant carriers: 2987
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 2.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 9.25e1
  variant carriers: 518
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 7.25e1
  variant carriers: 416
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 4.75e1
  variant carriers: 206
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 2.75e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 5.25e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 8.25e1
  variant carriers: 479
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 4.25e1
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 3.25e1
  variant carriers: 222
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 7.75e1
  variant carriers: 470
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 5.75e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 6.25e1
  variant carriers: 302
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 3.75e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 8.75e1
  variant carriers: 479
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 351
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

19-17339043-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17339043
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17339043
    reference: chr 19
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-22C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.451-22C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-22C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.748-22C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.614-22C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-22C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.619-22C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.503-22C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.585-22C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-22C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*150-22C>T
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10986
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

19-17339060-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17339060
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17339060
    reference: chr 19
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.503-5T>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-5T>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.614-5T>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.619-5T>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.748-5T>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-5T>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-5T>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.451-5T>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*150-5T>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.585-5T>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-5T>C
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.619-5T>C
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum

19-17339062-CAGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17339062
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17339059
    reference: chr 19
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469624
  ensembl transcript: ENST00000600826
  gene symbol: OCEL1
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158_*1delAAG
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43_45delAAG
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470883
  ensembl transcript: ENST00000595573
  gene symbol: OCEL1
  hgvsc: ENST00000595573.1:c.3_5delAAG
  hgvsp: ENSP00000470883.1:p.Lys2del
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.451_453delAAG
  hgvsp: ENSP00000470270.1:p.Lys151del
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.748_750delAAG
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599_601delAAG
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.503_505delAAG
  hgvsp: ENSP00000471311.1:p.Lys169del
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.619_621delAAG
  hgvsp: ENSP00000215061.3:p.Lys207del
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453_455delAAG
  hgvsp: ENSP00000471201.1:p.Arg153del
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.585_587delAAG
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*150_*152delAAG
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.614_616delAAG
  hgvsp: ENSP00000469261.1:p.Lys206del
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.619_621delAAG
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: CAGA
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/19-17339063-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17339063
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17339063
    reference: chr 19
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.503-2A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.453-2A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.599-2A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.748-2A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.451-2A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*150-2A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.43-2A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.158-2A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.614-2A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470883
  ensembl transcript: ENST00000595573
  gene symbol: OCEL1
  hgvsc: ENST00000595573.1:c.1A>C
  hgvsp: ENST00000595573.1:c.1A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.619-2A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.585-2A>C
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.619-2A>C
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

19-17339070-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17339070
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17339070
    reference: chr 19
allele count: 31
allele frequency: 2.553289625407703e-4
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469624
  ensembl transcript: ENST00000600826
  gene symbol: OCEL1
  hgvsc: ENST00000600826.1:c.6G>A
  hgvsp: ENST00000600826.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.458G>A
  hgvsp: ENSP00000471201.1:p.Arg153Lys
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.590G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.604G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470883
  ensembl transcript: ENST00000595573
  gene symbol: OCEL1
  hgvsc: ENST00000595573.1:c.8G>A
  hgvsp: ENST00000595573.1:c.8G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*155G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.619G>A
  hgvsp: ENST00000600232.1:c.619G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.508G>A
  hgvsp: ENST00000598068.1:c.508G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.*4G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.48G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.624G>A
  hgvsp: ENST00000215061.4:c.624G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.456G>A
  hgvsp: ENST00000597836.1:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.753G>A
  variant of: http://identifiers.org/hgnc/26221
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11006
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg153Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

19-17339072-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17339072
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17339072
    reference: chr 19
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469624
  ensembl transcript: ENST00000600826
  gene symbol: OCEL1
  hgvsc: ENST00000600826.1:c.8C>T
  hgvsp: ENSP00000469624.1:p.Ala3Val
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*157C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.621C>T
  hgvsp: ENSP00000469261.1:p.Ala208Val
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.*6C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470883
  ensembl transcript: ENST00000595573
  gene symbol: OCEL1
  hgvsc: ENST00000595573.1:c.10C>T
  hgvsp: ENSP00000470883.1:p.Ala4Val
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.510C>T
  hgvsp: ENSP00000471311.1:p.Ala171Val
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.592C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.626C>T
  hgvsp: ENSP00000215061.3:p.Ala209Val
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.50C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.458C>T
  hgvsp: ENSP00000470270.1:p.Ala153Val
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.606C>T
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.460C>T
  hgvsp: ENSP00000471201.1:p.Pro154Ser
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.755C>T
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10989
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala209Val
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: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/19-17339076-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17339076
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17339076
    reference: chr 19
allele count: 12
allele frequency: 9.883701775771753e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.514A>C
  hgvsp: ENSP00000471311.1:p.Gln172His
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.610A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470883
  ensembl transcript: ENST00000595573
  gene symbol: OCEL1
  hgvsc: ENST00000595573.1:c.14A>C
  hgvsp: ENSP00000470883.1:p.Gln5His
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*161A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.759A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.630A>C
  hgvsp: ENSP00000215061.3:p.Gln210His
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.464A>C
  hgvsp: ENSP00000471201.1:p.Lys155Thr
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469624
  ensembl transcript: ENST00000600826
  gene symbol: OCEL1
  hgvsc: ENST00000600826.1:c.12A>C
  hgvsp: ENSP00000469624.1:p.Gln4His
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.625A>C
  hgvsp: ENSP00000469261.1:p.Gln209His
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.54A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.*10A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.596A>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.462A>C
  hgvsp: ENSP00000470270.1:p.Gln154His
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10998
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln210His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-17339077-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17339077
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17339077
    reference: chr 19
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.597G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.611G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*162G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.55G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.626G>A
  hgvsp: ENSP00000469261.1:p.Val210Ile
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.465G>A
  hgvsp: ENST00000601529.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.463G>A
  hgvsp: ENSP00000470270.1:p.Val155Ile
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470883
  ensembl transcript: ENST00000595573
  gene symbol: OCEL1
  hgvsc: ENST00000595573.1:c.15G>A
  hgvsp: ENSP00000470883.1:p.Val6Ile
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.*11G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469624
  ensembl transcript: ENST00000600826
  gene symbol: OCEL1
  hgvsc: ENST00000600826.1:c.13G>A
  hgvsp: ENSP00000469624.1:p.Val5Ile
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.515G>A
  hgvsp: ENSP00000471311.1:p.Val173Ile
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.760G>A
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.631G>A
  hgvsp: ENSP00000215061.3:p.Val211Ile
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val211Ile
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

19-17339077-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17339077
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17339077
    reference: chr 19
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470258
  ensembl transcript: ENST00000598172
  gene symbol: OCEL1
  hgvsc: ENST00000598172.1:c.*162G>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471201
  ensembl transcript: ENST00000601529
  gene symbol: OCEL1
  hgvsc: ENST00000601529.1:c.465G>C
  hgvsp: ENSP00000471201.1:p.Lys155Asn
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000599588
  gene symbol: OCEL1
  hgvsc: ENST00000599588.1:n.611G>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000596279
  gene symbol: OCEL1
  hgvsc: ENST00000596279.1:n.597G>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470883
  ensembl transcript: ENST00000595573
  gene symbol: OCEL1
  hgvsc: ENST00000595573.1:c.15G>C
  hgvsp: ENSP00000470883.1:p.Val6Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471742
  ensembl transcript: ENST00000599286
  gene symbol: OCEL1
  hgvsc: ENST00000599286.1:c.*11G>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000471311
  ensembl transcript: ENST00000598068
  gene symbol: OCEL1
  hgvsc: ENST00000598068.1:c.515G>C
  hgvsp: ENSP00000471311.1:p.Val173Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000595769
  gene symbol: OCEL1
  hgvsc: ENST00000595769.1:n.55G>C
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469261
  ensembl transcript: ENST00000600232
  gene symbol: OCEL1
  hgvsc: ENST00000600232.1:c.626G>C
  hgvsp: ENSP00000469261.1:p.Val210Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000469624
  ensembl transcript: ENST00000600826
  gene symbol: OCEL1
  hgvsc: ENST00000600826.1:c.13G>C
  hgvsp: ENSP00000469624.1:p.Val5Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000215061
  ensembl transcript: ENST00000215061
  gene symbol: OCEL1
  hgvsc: ENST00000215061.4:c.631G>C
  hgvsp: ENSP00000215061.3:p.Val211Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099330
  ensembl protein: ENSP00000470270
  ensembl transcript: ENST00000597836
  gene symbol: OCEL1
  hgvsc: ENST00000597836.1:c.463G>C
  hgvsp: ENSP00000470270.1:p.Val155Leu
  variant of: http://identifiers.org/hgnc/26221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099330
  ensembl transcript: ENST00000594283
  gene symbol: OCEL1
  hgvsc: ENST00000594283.1:n.760G>C
  variant of: http://identifiers.org/hgnc/26221
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val211Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G

GenotypeDepth
all individuals: 669
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2891
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3752
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11038
bin: 9.75e1
variant carriers: 200

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4006
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4859
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7845
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18270
bin: 6.25e1
variant carriers: 1

Other
type: Population
allele count: 3
allele frequency: 3.370786516853933e-3
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 118
allele frequency: 1.792768155575813e-2
allele num: 6582
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 86
allele frequency: 1.301255863216826e-3
allele num: 66090
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

QD
type: SiteQuality
SIO_000300: 1.072e1

FS
type: SiteQuality
SIO_000300: 1.169e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-2

DP
type: SiteQuality
SIO_000300: 1.880136e6

GenotypeDepth
all individuals: 636
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4868
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7887
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10886
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 339
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3773
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2894
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4021
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18598
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.254862592546116e-4
allele num: 15938
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66098
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

FS
type: SiteQuality
SIO_000300: 4.448e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.927e0

VQSLOD
type: SiteQuality
SIO_000300: -9.858e-1

DP
type: SiteQuality
SIO_000300: 1.880911e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

QD
type: SiteQuality
SIO_000300: 1.891e1

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4863
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4023
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10883
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2895
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7883
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18810
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3767
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66102
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15938
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

QD
type: SiteQuality
SIO_000300: 8.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 1.882698e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.96e-1

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3818
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20965
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2901
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8084
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4065
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2122
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10889
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4901
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510756586898719e-5
allele num: 66192
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16066
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.074e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 9.02e0

DP
type: SiteQuality
SIO_000300: 1.905331e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.701e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
SIO_000300: -3.864e-1

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8104
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10889
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 190
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4063
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21162
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3809
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4908
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16106
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020965500573983e-5
allele num: 66204
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

DP
type: SiteQuality
SIO_000300: 1.908406e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.61e-1

FS
type: SiteQuality
SIO_000300: 1.895e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

GenotypeDepth
all individuals: 677
bin: 5.75e1
variant carriers: 10

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

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4905
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4062
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8105
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21052
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3821
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10942
bin: 9.75e1
variant carriers: 78

GenotypeQuality
all individuals: 2898
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.601456815816858e-4
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 71
allele frequency: 6.861229223038268e-3
allele num: 10348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16114
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.530627038782167e-5
allele num: 66216
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

DP
type: SiteQuality
SIO_000300: 1.911037e6

QD
type: SiteQuality
SIO_000300: 1.439e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.33e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4066
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4925
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8135
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3830
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2903
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10890
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 21401
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.019506008816958e-5
allele num: 66236
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.475e0

DP
type: SiteQuality
SIO_000300: 1.912922e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.374e1

GenotypeDepth
all individuals: 151
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3830
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 439
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21401
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8135
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10890
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 4066
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2903
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4925
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.056827103085935e-4
allele num: 66236
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.912922e6

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.475e0

QD
type: SiteQuality
SIO_000300: 1.374e1

GenotypeDepth
all individuals: 7883
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11045
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4952
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22325
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4090
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2910
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8271
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3856
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10899
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
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: 6604
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

DP
type: SiteQuality
SIO_000300: 1.928096e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.05e-1

QD
type: SiteQuality
SIO_000300: 1.028e1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

FS
type: SiteQuality
SIO_000300: 1.759e0

VQSLOD
type: SiteQuality
SIO_000300: 9.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.569e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.05e-1

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 9.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8271
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2910
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4090
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4952
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 220
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22325
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10899
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3856
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

Other
type: Population
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: 6604
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.26e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.05e-1

FS
type: SiteQuality
SIO_000300: 1.759e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.569e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

DP
type: SiteQuality
SIO_000300: 1.928096e6

QD
type: SiteQuality
SIO_000300: 1.028e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

GenotypeDepth
all individuals: 77
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4947
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4097
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10899
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8293
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3867
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22455
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2910
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504890895410083e-5
allele num: 66450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

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

Other
type: Population
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: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: -7.226e0

MQ
type: SiteQuality
SIO_000300: 5.048e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-1

FS
type: SiteQuality
SIO_000300: 1.894e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

QD
type: SiteQuality
SIO_000300: 6.58e0

DP
type: SiteQuality
SIO_000300: 1.930301e6

GenotypeDepth
all individuals: 298
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 22449
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8309
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2909
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10902
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3878
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4100
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4952
bin: 7.75e1
variant carriers: 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: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.931572e6

QD
type: SiteQuality
SIO_000300: 1.793e1

VQSLOD
type: SiteQuality
SIO_000300: -1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.955e0

MQRankSum
type: SiteQuality
SIO_000300: -1.409e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-1

GenotypeDepth
all individuals: 150
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1413
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23085
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2898
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8330
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4062
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3842
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10856
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4936
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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: 906
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.12e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.19e-2

DP
type: SiteQuality
SIO_000300: 1.93642e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

FS
type: SiteQuality
SIO_000300: 5.78e-1

QD
type: SiteQuality
SIO_000300: 1.773e1

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 670
bin: 5.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2896
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4938
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4055
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10857
bin: 9.75e1
variant carriers: 5

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

GenotypeQuality
all individuals: 23191
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8344
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.506940688660537e-5
allele num: 66564
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 1.267e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

DP
type: SiteQuality
SIO_000300: 1.936894e6

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

GenotypeDepth
all individuals: 670
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2821
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2897
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10854
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23229
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8357
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4053
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4935
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3847
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.183e0

FS
type: SiteQuality
SIO_000300: 6.1e0

DP
type: SiteQuality
SIO_000300: 1.937257e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

QD
type: SiteQuality
SIO_000300: 1.465e1

VQSLOD
type: SiteQuality
SIO_000300: -1.476e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 670
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23257
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8359
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2897
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10854
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4053
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4939
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 10392
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.193e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.937455e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.482e0

VQSLOD
type: SiteQuality
SIO_000300: 4.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.255e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

GenotypeDepth
all individuals: 298
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4793
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 23385
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4056
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4933
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2897
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8361
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3842
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10854
bin: 9.75e1
variant carriers: 1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.035e0

DP
type: SiteQuality
SIO_000300: 1.938931e6

VQSLOD
type: SiteQuality
SIO_000300: -1.162e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: -1.585e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.036e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 9.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8357
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4050
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4931
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23409
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10863
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 3841
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2896
bin: 9.25e1
variant carriers: 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: 8650
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 8
allele frequency: 6.914433880726015e-4
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.434e0

DP
type: SiteQuality
SIO_000300: 1.939555e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.33e-1

FS
type: SiteQuality
SIO_000300: 1.171e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 1.209e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeDepth
all individuals: 2821
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8363
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4052
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10857
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 23453
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2897
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4928
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3845
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.25e-1

DP
type: SiteQuality
SIO_000300: 1.939387e6

FS
type: SiteQuality
SIO_000300: 4.002e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.158e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e-1

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8358
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23436
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4055
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3846
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10858
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4931
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.62e-1

DP
type: SiteQuality
SIO_000300: 1.939858e6

QD
type: SiteQuality
SIO_000300: 1.552e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.203e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3845
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4056
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2897
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4931
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23456
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10856
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 78
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8360
bin: 6.75e1
variant carriers: 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: 6614
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.939877e6

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.219e1

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.32e-1

GenotypeDepth
all individuals: 13407
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8360
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4056
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23456
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4931
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2897
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10856
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3845
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.941e1

QD
type: SiteQuality
SIO_000300: 1.219e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.32e-1

DP
type: SiteQuality
SIO_000300: 1.939877e6

GenotypeDepth
all individuals: 17848
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2109
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10853
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23480
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3851
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2898
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4930
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4052
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8364
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.304e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 3.654e0

DP
type: SiteQuality
SIO_000300: 1.940028e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeDepth
all individuals: 55
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2109
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3853
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8371
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 23488
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10856
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4927
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2897
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4052
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.940089e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 2.425e0

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.4e-1

QD
type: SiteQuality
SIO_000300: 1.185e1

GenotypeDepth
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2896
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8365
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3853
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23468
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4051
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10855
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4927
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2109
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
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: 10400
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.319281271596407e-4
allele num: 11576
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 1.266e1

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.358e0

DP
type: SiteQuality
SIO_000300: 1.940249e6

VQSLOD
type: SiteQuality
SIO_000300: 9.0e-1

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13406
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4926
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2109
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2896
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8372
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3853
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23487
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4052
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10851
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 1.939942e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.83e-1

FS
type: SiteQuality
SIO_000300: 7.698e0

GenotypeDepth
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2894
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8370
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3852
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4052
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4925
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23470
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10854
bin: 9.75e1
variant carriers: 1

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 1.94023e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

QD
type: SiteQuality
SIO_000300: 1.06e1

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8370
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
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: 12
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4052
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4925
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23470
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10854
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3852
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2894
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.000060000600006e-5
allele num: 66666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.06e1

DP
type: SiteQuality
SIO_000300: 1.94023e6

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

GenotypeDepth
all individuals: 13401
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 58
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8365
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3851
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2108
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4051
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23480
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2895
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4925
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10855
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.000630044103088e-5
allele num: 66662
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.33e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

DP
type: SiteQuality
SIO_000300: 1.940225e6

GenotypeDepth
all individuals: 24
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13390
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4914
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4044
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10914
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2889
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23466
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8355
bin: 6.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000120004800192e-5
allele num: 66664
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.945936e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

VQSLOD
type: SiteQuality
SIO_000300: 5.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

GenotypeDepth
all individuals: 98
bin: 9.75e1
variant carriers: 43

GenotypeDepth
all individuals: 2815
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4044
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8355
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23466
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10914
bin: 9.75e1
variant carriers: 86

GenotypeQuality
all individuals: 4914
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2889
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 68
allele frequency: 4.118217054263566e-3
allele num: 16512
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.950078003120125e-4
allele num: 66664
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.456022118541559e-4
allele num: 11574
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

DP
type: SiteQuality
SIO_000300: 1.945936e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

GenotypeDepth
all individuals: 56
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2893
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23481
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3855
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8372
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10835
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4050
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4921
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000390050706592e-5
allele num: 66658
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

FS
type: SiteQuality
SIO_000300: 2.507e0

DP
type: SiteQuality
SIO_000300: 1.939984e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.072e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.17e-1

QD
type: SiteQuality
SIO_000300: 9.01e0

GenotypeDepth
all individuals: 7840
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23476
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3857
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4049
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4919
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2893
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8363
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10835
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.52e0

MQ
type: SiteQuality
SIO_000300: 5.891e1

VQSLOD
type: SiteQuality
SIO_000300: -2.623e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.943e0

QD
type: SiteQuality
SIO_000300: 1.191e1

MQRankSum
type: SiteQuality
SIO_000300: -2.398e0

DP
type: SiteQuality
SIO_000300: 1.939754e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.61e-1

GenotypeDepth
all individuals: 299
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13410
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2893
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4049
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 85
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23472
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4919
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8362
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10835
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3858
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
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: 904
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.19e-1

DP
type: SiteQuality
SIO_000300: 1.939563e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.618e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.19e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.74e-1

QD
type: SiteQuality
SIO_000300: 1.104e1

GenotypeDepth
all individuals: 671
bin: 5.75e1
variant carriers: 4

GenotypeDepth
all individuals: 301
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2106
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2886
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8354
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4910
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10878
bin: 9.75e1
variant carriers: 76

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4045
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3856
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23476
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.25e1
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.049606775559589e-4
allele num: 6612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 72
allele frequency: 1.080205238995409e-3
allele num: 66654
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.25e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 5.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

DP
type: SiteQuality
SIO_000300: 1.944901e6

GenotypeDepth
all individuals: 7842
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10825
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8343
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23356
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4916
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2889
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3847
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4042
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2105
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
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: 6612
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: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

DP
type: SiteQuality
SIO_000300: 1.938402e6

QD
type: SiteQuality
SIO_000300: 1.089e1

GenotypeDepth
all individuals: 56
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2889
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2105
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23356
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8343
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4042
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3847
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10825
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4916
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 2
allele frequency: 3.001741009785676e-5
allele num: 66628
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

QD
type: SiteQuality
SIO_000300: 1.089e1

MQ
type: SiteQuality
SIO_000300: 5.935e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

DP
type: SiteQuality
SIO_000300: 1.938402e6

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1409
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3846
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8339
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10829
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 133
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23353
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2887
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4915
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4042
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 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: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

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

East Asian
type: Population
allele count: 7
allele frequency: 8.094357076780758e-4
allele num: 8648
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-3

DP
type: SiteQuality
SIO_000300: 1.938837e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.23e-1

QD
type: SiteQuality
SIO_000300: 1.188e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

GenotypeDepth
all individuals: 76
bin: 9.75e1
variant carriers: 21

GenotypeDepth
all individuals: 670
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8335
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10850
bin: 9.75e1
variant carriers: 61

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

GenotypeQuality
all individuals: 4040
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2882
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4910
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3844
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23349
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 60
allele frequency: 5.775895263765884e-3
allele num: 10388
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

QD
type: SiteQuality
SIO_000300: 1.212e1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.64e-1

DP
type: SiteQuality
SIO_000300: 1.941022e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

GenotypeDepth
all individuals: 4782
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2818
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10799
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23365
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4041
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3840
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8322
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2107
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4909
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2886
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.452e0

VQSLOD
type: SiteQuality
SIO_000300: 4.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.567e0

QD
type: SiteQuality
SIO_000300: 1.261e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-2

DP
type: SiteQuality
SIO_000300: 1.936991e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-1

GenotypeQuality
all individuals: 2105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3837
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10798
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 23390
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2886
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4902
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8320
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4036
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.926411096127914e-4
allele num: 10382
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.936428e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.103e1

VQSLOD
type: SiteQuality
SIO_000300: 9.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.671e0

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 4.084e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 685
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4022
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8160
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4864
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 22531
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2881
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3798
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10796
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2102
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
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: 10282
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66244
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.099e0

QD
type: SiteQuality
SIO_000300: 1.379e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.39e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.089e0

DP
type: SiteQuality
SIO_000300: 1.92388e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 210
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2880
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 230
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3777
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22263
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10800
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4008
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8138
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4854
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.824151769427216e-4
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
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: 10256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

DP
type: SiteQuality
SIO_000300: 1.921059e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.839e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.33e0

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22101
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3986
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2090
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8068
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4821
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10962
bin: 9.75e1
variant carriers: 238

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2866
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3758
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 2
allele frequency: 2.217294900221729e-3
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.213802670365875e-3
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 214
allele frequency: 2.090252002344208e-2
allele num: 10238
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.51267622678042e-4
allele num: 66108
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.77e-1

FS
type: SiteQuality
SIO_000300: 6.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.016e1

DP
type: SiteQuality
SIO_000300: 1.924298e6

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4804
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10753
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3997
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3751
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2870
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21812
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2092
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65976
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.192e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.053e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.911748e6

VQSLOD
type: SiteQuality
SIO_000300: 5.01e0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10752
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 293
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3325
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16919
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2854
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7285
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3597
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4700
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3968
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537799101925324e-5
allele num: 65028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16074
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.146e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.316e1

VQSLOD
type: SiteQuality
SIO_000300: 4.17e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.078e0

MQRankSum
type: SiteQuality
SIO_000300: -8.92e-1

DP
type: SiteQuality
SIO_000300: 1.843102e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2079
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3574
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3955
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10744
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 166
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2845
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16350
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7190
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4674
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3456
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.170686022008897e-4
allele num: 8542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.281e0

QD
type: SiteQuality
SIO_000300: 1.566e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.833949e6

GenotypeQuality
all individuals: 10755
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 127
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 216
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3558
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3945
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3484
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7125
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2840
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2076
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16585
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4659
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.537515375153752e-4
allele num: 6504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.242976651267325e-5
allele num: 16018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 4.782031900780551e-4
allele num: 64826
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.965e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

FS
type: SiteQuality
SIO_000300: 1.414e0

VQSLOD
type: SiteQuality
SIO_000300: 3.03e0

QD
type: SiteQuality
SIO_000300: 1.244e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.833206e6

GenotypeQuality
all individuals: 2303
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2076
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10731
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4558
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3426
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6389
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3431
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3909
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12455
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.176470588235294e-4
allele num: 8500
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.779913e6

FS
type: SiteQuality
SIO_000300: 3.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.291e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.275e1

GenotypeQuality
all individuals: 2344
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1738
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10733
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2068
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6351
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3438
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3201
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63912
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.088139281828074e-4
allele num: 9190
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.758101243650377e-5
allele num: 11418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15820
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 3.72e0

MQ
type: SiteQuality
SIO_000300: 5.049e1

DP
type: SiteQuality
SIO_000300: 1.773865e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e0

MQRankSum
type: SiteQuality
SIO_000300: -4.128e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

VQSLOD
type: SiteQuality
SIO_000300: -1.922e-1

GenotypeQuality
all individuals: 574
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10825
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1262
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3069
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3883
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2362
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6231
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2243
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1833
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4521
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2823
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10727
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2063
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3414
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15740
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.095770326539557e-4
allele num: 9126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.571e0

QD
type: SiteQuality
SIO_000300: 1.284e1

MQRankSum
type: SiteQuality
SIO_000300: -2.98e-1

FS
type: SiteQuality
SIO_000300: 1.842e0

MQ
type: SiteQuality
SIO_000300: 6.032e1

DP
type: SiteQuality
SIO_000300: 1.769852e6

GenotypeQuality
all individuals: 422
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1948
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6233
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10675
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4522
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2059
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3882
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2276
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2825
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2383
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3405
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3112
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10731
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63752
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.366993505666624e-5
allele num: 15706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9146
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.477000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.482e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.059e0

MQ
type: SiteQuality
SIO_000300: 5.883e1

DP
type: SiteQuality
SIO_000300: 1.768108e6

QD
type: SiteQuality
SIO_000300: 9.779999999999999e0

GenotypeQuality
all individuals: 6028
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2041
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2851
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4515
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3402
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10736
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2345
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3888
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9108
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2416
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2238
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2828
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.575249677073816e-5
allele num: 63482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9010
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

FS
type: SiteQuality
SIO_000300: 1.337e0

MQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

QD
type: SiteQuality
SIO_000300: 1.721e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.54e-1

MQ
type: SiteQuality
SIO_000300: 5.52e1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

DP
type: SiteQuality
SIO_000300: 1.762561e6

GenotypeQuality
all individuals: 183
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4487
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10730
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5965
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2334
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2883
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9339
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3378
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3874
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2274
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2818
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15598
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.111111111111111e-4
allele num: 9000
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.210000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e0

DP
type: SiteQuality
SIO_000300: 1.762119e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.017e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

MQ
type: SiteQuality
SIO_000300: 5.933e1

GenotypeQuality
all individuals: 1395
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2352
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3876
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2827
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1891
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1727
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4514
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5903
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3394
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3028
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10746
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 9749
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2395
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9056
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15606
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.177856301531213e-3
allele num: 8490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63476
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.992e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

DP
type: SiteQuality
SIO_000300: 1.761248e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.592e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

QD
type: SiteQuality
SIO_000300: 1.315e1

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

GenotypeQuality
all individuals: 2093
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2827
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2356
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2289
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8941
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10797
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2082
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2868
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4680
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3500
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6105
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3979
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9086
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.176747469992939e-4
allele num: 8498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15578
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.341e0

DP
type: SiteQuality
SIO_000300: 1.768154e6

VQSLOD
type: SiteQuality
SIO_000300: -1.124e0

FS
type: SiteQuality
SIO_000300: 6.831e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 8.24e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.891e0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54571
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 827
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 841
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 6.25e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 9.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.923e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

QD
type: SiteQuality
SIO_000300: 1.033e1

DP
type: SiteQuality
SIO_000300: 4.376423e6

MQ
type: SiteQuality
SIO_000300: 5.149e1

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 719
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 48
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 7.75e1
variant carriers: 7

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

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 55455
bin: 9.75e1
variant carriers: 7541

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

GenotypeQuality
all individuals: 440
bin: 8.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 725
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1141
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 6.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 4975
allele frequency: 7.459441628932138e-2
allele num: 66694
num of homozygotes: 214

Other
type: Population
allele count: 100
allele frequency: 1.106194690265487e-1
allele num: 904
num of homozygotes: 7

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 363
allele frequency: 3.491727587533667e-2
allele num: 10396
num of homozygotes: 7

Latino
type: Population
allele count: 591
allele frequency: 5.104508550699603e-2
allele num: 11578
num of homozygotes: 23

European (Finnish)
type: Population
allele count: 362
allele frequency: 5.473238584820079e-2
allele num: 6614
num of homozygotes: 10

South Asian
type: Population
allele count: 1527
allele frequency: 9.256789524733269e-2
allele num: 16496
num of homozygotes: 90

DP
type: SiteQuality
SIO_000300: 4.509527e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

FS
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.44e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.677e1

GenotypeQuality
all individuals: 54814
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 492
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1412
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
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: 6614
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.659e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

FS
type: SiteQuality
SIO_000300: 2.6275e1

DP
type: SiteQuality
SIO_000300: 4.469619e6

QD
type: SiteQuality
SIO_000300: 1.585e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.468e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 3562
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10986
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 888
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54817
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 496
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.335e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.787e0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: -7.98e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 4.470268e6

FS
type: SiteQuality
SIO_000300: 2.938e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

GenotypeDepth
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2781
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4344
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10989
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1657
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2154
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1936
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5137
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54816
bin: 9.75e1
variant carriers: 3

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

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

GenotypeQuality
all individuals: 888
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 7.75e1
variant carriers: 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: 16512
num of homozygotes: 0

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

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

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.761e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

FS
type: SiteQuality
SIO_000300: 2.593e0

MQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.32e-1

DP
type: SiteQuality
SIO_000300: 4.470498e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

QD
type: SiteQuality
SIO_000300: 1.573e1

GenotypeDepth
all individuals: 4344
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10987
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 889
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54813
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 505
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

FS
type: SiteQuality
SIO_000300: 5.209e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.785e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.31e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

QD
type: SiteQuality
SIO_000300: 1.561e1

VQSLOD
type: SiteQuality
SIO_000300: 7.67e-1

DP
type: SiteQuality
SIO_000300: 4.470162e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-1

GenotypeDepth
all individuals: 2682
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1657
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4737
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4083
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2780
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 888
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1427
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 496
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54819
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 846
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
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: 31
allele frequency: 2.979050547760907e-3
allele num: 10406
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.43e-1

DP
type: SiteQuality
SIO_000300: 4.472029e6

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.931e0

VQSLOD
type: SiteQuality
SIO_000300: 3.46e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeDepth
all individuals: 5112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1656
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2784
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2681
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4342
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54814
bin: 9.75e1
variant carriers: 2

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

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 888
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 505
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1429
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 874
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

FS
type: SiteQuality
SIO_000300: 5.205e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.151e0

MQ
type: SiteQuality
SIO_000300: 5.991e1

DP
type: SiteQuality
SIO_000300: 4.470656e6

MQRankSum
type: SiteQuality
SIO_000300: 9.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.125e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.14e-1

GenotypeDepth
all individuals: 5032
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1656
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3558
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5110
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3383
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 847
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 873
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 888
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54815
bin: 9.75e1
variant carriers: 12

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

African
type: Population
allele count: 12
allele frequency: 1.153180857197771e-3
allele num: 10406
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: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.269e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

DP
type: SiteQuality
SIO_000300: 4.471612e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

GenotypeDepth
all individuals: 3558
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5109
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3382
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2783
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10996
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 54814
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 496
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1429
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 889
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 873
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
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: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.184e0

DP
type: SiteQuality
SIO_000300: 4.471214e6

FS
type: SiteQuality
SIO_000300: 1.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e0

QD
type: SiteQuality
SIO_000300: 1.113e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

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

GenotypeDepth
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2681
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10996
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2783
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 496
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 889
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1429
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54814
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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