19-56704414-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56704414
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 56704414
    reference: chr 19
allele count: 18
allele frequency: 5.693680015183147e-4
allele num: 31614
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197213
  ensembl protein: ENSP00000466072
  ensembl transcript: ENST00000586855
  gene symbol: ZSCAN5B
  hgvsc: ENST00000586855.2:c.8C>G
  hgvsp: ENSP00000466072.2:p.Ala3Gly
  variant of: http://identifiers.org/hgnc/34246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197213
  ensembl protein: ENSP00000465118
  ensembl transcript: ENST00000589938
  gene symbol: ZSCAN5B
  hgvsc: ENST00000589938.1:c.8C>G
  hgvsp: ENSP00000465118.1:p.Ala3Gly
  variant of: http://identifiers.org/hgnc/34246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197213
  ensembl protein: ENSP00000468660
  ensembl transcript: ENST00000587032
  gene symbol: ZSCAN5B
  hgvsc: ENST00000587032.2:c.8C>G
  hgvsp: ENSP00000468660.2:p.Ala3Gly
  variant of: http://identifiers.org/hgnc/34246
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197213
  ensembl protein: ENSP00000351883
  ensembl transcript: ENST00000358992
  gene symbol: ZSCAN5B
  hgvsc: ENST00000358992.3:c.8C>G
  hgvsp: ENSP00000351883.3:p.Ala3Gly
  variant of: http://identifiers.org/hgnc/34246
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26700
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9902
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27339
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16021
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala3Gly
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

17-36358207-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358207
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358207
    reference: chr 17
allele count: 5
allele frequency: 5.093724531377343e-4
allele num: 9816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.813-49A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4486-49A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.482-49A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.947-49A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.947-49A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.935-49A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*514-49A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*444-49A>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-36358208-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358208
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358208
    reference: chr 17
allele count: 130
allele frequency: 1.370729649936736e-2
allele num: 9484
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.935-50T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.813-50T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.947-50T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4486-50T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.482-50T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*514-50T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.947-50T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*444-50T>G
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 2.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 1.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 7.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 7.5e0
  variant carriers: 3
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-36358209-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358209
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358209
    reference: chr 17
allele count: 25
allele frequency: 2.648305084745763e-3
allele num: 9440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4486-51A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.813-51A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*444-51A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.947-51A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.935-51A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.482-51A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*514-51A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.947-51A>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 4
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/17-36358210-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358210
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358210
    reference: chr 17
allele count: 48
allele frequency: 4.782781984854523e-3
allele num: 10036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4486-52T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*444-52T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.813-52T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.947-52T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.482-52T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.935-52T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*514-52T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.947-52T>G
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 2.5e0
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 7.5e0
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-36358211-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358211
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358211
    reference: chr 17
allele count: 5
allele frequency: 4.995004995004995e-4
allele num: 10010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4486-53A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*514-53A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.935-53A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.813-53A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.482-53A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.947-53A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.947-53A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*444-53A>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-36358212-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358212
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358212
    reference: chr 17
allele count: 106
allele frequency: 1.05012878937983e-2
allele num: 10094
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.813-54T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.482-54T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*514-54T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.947-54T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.947-54T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.935-54T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*444-54T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4486-54T>G
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 2.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 7.5e0
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 2.5e0
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

17-36358212-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358212
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358212
    reference: chr 17
allele count: 1
allele frequency: 9.906875371507826e-5
allele num: 10094
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4486-54T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.813-54T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.947-54T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*514-54T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.947-54T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.935-54T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.482-54T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*444-54T>C
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

17-36358213-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358213
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358213
    reference: chr 17
allele count: 2
allele frequency: 2.150537634408602e-4
allele num: 9300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.482-55A>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*514-55A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.947-55A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.947-55A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4486-55A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.935-55A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.813-55A>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*444-55A>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3768
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-36358214-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358214
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358214
    reference: chr 17
allele count: 6
allele frequency: 6.215040397762585e-4
allele num: 9654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*444-56T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.947-56T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.935-56T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.813-56T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4486-56T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*514-56T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.482-56T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.947-56T>G
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 2.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS

17-36358214-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358214
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358214
    reference: chr 17
allele count: 10
allele frequency: 1.035840066293764e-3
allele num: 9654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*514-56T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4486-56T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*444-56T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.482-56T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.947-56T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.935-56T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.813-56T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.947-56T>C
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/17-36358216-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358216
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358216
    reference: chr 17
allele count: 36
allele frequency: 3.987594151528578e-3
allele num: 9028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.947-58T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.813-58T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*514-58T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.935-58T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.947-58T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4486-58T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.482-58T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*444-58T>G
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 2.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 3.25e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-36358265-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358265
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358265
    reference: chr 17
allele count: 545
allele frequency: 7.231953290870488e-2
allele num: 7536
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.812+34A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4485+34A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*513+34A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.946+34A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.481+34A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.934+34A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.946+34A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*443+34A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12724
  bin: 2.5e0
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 1.25e1
  variant carriers: 209
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 2.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 7.5e0
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 9.75e1
  variant carriers: 458
genotype quality: GenotypeQuality
  all individuals: 8935
  bin: 7.5e0
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 8.25e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 9.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.75e1
  variant carriers: 18
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

17-36358274-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358274
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358273
    reference: chr 17
allele count: 11
allele frequency: 1.71875e-3
allele num: 6400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.812+24delC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.481+24delC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*513+24delC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.946+24delC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4485+24delC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.946+24delC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.934+24delC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*443+24delC
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14042
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 2.5e0
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: AG
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

17-36358285-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358285
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358284
    reference: chr 17
allele count: 25
allele frequency: 3.944461975386557e-3
allele num: 6338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*513+13delT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*443+13delT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.934+13delT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.946+13delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4485+13delT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.481+13delT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.812+13delT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.946+13delT
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15833
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 6.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: GA
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

17-36358303-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358303
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358303
    reference: chr 17
allele count: 17
allele frequency: 2.349364289662797e-3
allele num: 7236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*509A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.930A>G
  hgvsp: ENST00000518004.1:c.930A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.942A>G
  hgvsp: ENST00000312412.4:c.942A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4481A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.477A>G
  hgvsp: ENST00000544906.1:c.477A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.808A>G
  hgvsp: ENST00000523089.1:c.808A>G(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.942A>G
  hgvsp: ENST00000520237.1:c.942A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*439A>G
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.75e1
  variant carriers: 2
hgvs: p.Ala314Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-36358304-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358304
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358304
    reference: chr 17
allele count: 106
allele frequency: 1.459251101321586e-2
allele num: 7264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.476C>T
  hgvsp: ENSP00000444117.1:p.Ala159Val
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4480C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*508C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.929C>T
  hgvsp: ENSP00000428330.1:p.Ala310Val
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*438C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.941C>T
  hgvsp: ENSP00000428261.1:p.Ala314Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.807C>T
  hgvsp: ENSP00000427867.1:p.Ala270Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.941C>T
  hgvsp: ENSP00000308540.4:p.Ala314Val
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19512
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 9.75e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 6
hgvs: p.Ala314Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

17-36358324-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358324
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358324
    reference: chr 17
allele count: 1
allele frequency: 1.204238921001927e-4
allele num: 8304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.909C>A
  hgvsp: ENST00000518004.1:c.909C>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4460C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*488C>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.921C>A
  hgvsp: ENST00000520237.1:c.921C>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.456C>A
  hgvsp: ENST00000544906.1:c.456C>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.921C>A
  hgvsp: ENST00000312412.4:c.921C>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.787C>A
  hgvsp: ENST00000523089.1:c.787C>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*418C>A
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21865
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20849
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu307Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ

17-36358329-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358329
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358329
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 8470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.451G>C
  hgvsp: ENSP00000444117.1:p.Asp151His
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.916G>C
  hgvsp: ENSP00000428261.1:p.Asp306His
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4455G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.916G>C
  hgvsp: ENSP00000308540.4:p.Asp306His
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.904G>C
  hgvsp: ENSP00000428330.1:p.Asp302His
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.782G>C
  hgvsp: ENSP00000427867.1:p.Asp262His
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*413G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*483G>C
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22011
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp306His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

17-36358338-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358338
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358338
    reference: chr 17
allele count: 1
allele frequency: 1.138952164009112e-4
allele num: 8780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4446C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.895C>A
  hgvsp: ENSP00000428330.1:p.Pro299Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.773C>A
  hgvsp: ENSP00000427867.1:p.Pro259Thr
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*474C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.907C>A
  hgvsp: ENSP00000308540.4:p.Pro303Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.442C>A
  hgvsp: ENSP00000444117.1:p.Pro148Thr
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.907C>A
  hgvsp: ENSP00000428261.1:p.Pro303Thr
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*404C>A
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22036
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21098
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro303Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD

17-36358341-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358341
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358341
    reference: chr 17
allele count: 1
allele frequency: 1.125872551227201e-4
allele num: 8882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.439C>T
  hgvsp: ENST00000544906.1:c.439C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*401C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.904C>T
  hgvsp: ENST00000520237.1:c.904C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.904C>T
  hgvsp: ENST00000312412.4:c.904C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*471C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.892C>T
  hgvsp: ENST00000518004.1:c.892C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.770C>T
  hgvsp: ENST00000523089.1:c.770C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4443C>T
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21721
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu302Leu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-36358344-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358344
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358344
    reference: chr 17
allele count: 1
allele frequency: 1.11731843575419e-4
allele num: 8950
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.901C>T
  hgvsp: ENSP00000308540.4:p.Pro301Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.436C>T
  hgvsp: ENSP00000444117.1:p.Pro146Ser
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4440C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.767C>T
  hgvsp: ENSP00000427867.1:p.Pro257Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.889C>T
  hgvsp: ENSP00000428330.1:p.Pro297Ser
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*398C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.901C>T
  hgvsp: ENSP00000428261.1:p.Pro301Ser
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*468C>T
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21694
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20847
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5480
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro301Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

17-36358355-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358355
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358355
    reference: chr 17
allele count: 1
allele frequency: 1.096010521701008e-4
allele num: 9124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*457A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.425A>G
  hgvsp: ENSP00000444117.1:p.Asn142Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.890A>G
  hgvsp: ENSP00000308540.4:p.Asn297Ser
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*387A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.890A>G
  hgvsp: ENSP00000428261.1:p.Asn297Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.878A>G
  hgvsp: ENSP00000428330.1:p.Asn293Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.756A>G
  hgvsp: ENSP00000427867.1:p.Asn253Ser
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4429A>G
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20799
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn297Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

17-36358366-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358366
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358366
    reference: chr 17
allele count: 98
allele frequency: 1.092774308652988e-2
allele num: 8968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*446G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4418G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.867G>C
  hgvsp: ENSP00000428330.1:p.Lys289Asn
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.879G>C
  hgvsp: ENSP00000308540.4:p.Lys293Asn
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*376G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.745G>C
  hgvsp: ENSP00000427867.1:p.Lys249Asn
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.879G>C
  hgvsp: ENSP00000428261.1:p.Lys293Asn
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.414G>C
  hgvsp: ENSP00000444117.1:p.Lys138Asn
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 17842
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 17691
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys293Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-36358381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358381
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358381
    reference: chr 17
allele count: 12
allele frequency: 1.453488372093023e-3
allele num: 8256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*361C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*431C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.864C>T
  hgvsp: ENST00000520237.1:c.864C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4403C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.730C>T
  hgvsp: ENST00000523089.1:c.730C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.399C>T
  hgvsp: ENST00000544906.1:c.399C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.852C>T
  hgvsp: ENST00000518004.1:c.852C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.864C>T
  hgvsp: ENST00000312412.4:c.864C>T(p.%3D)
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Thr288Thr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

http://identifiers.org/exac.variant/17-36358392-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358392
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358392
    reference: chr 17
allele count: 3
allele frequency: 3.919519205644108e-4
allele num: 7654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.841G>T
  hgvsp: ENSP00000428330.1:p.Ala281Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.388G>T
  hgvsp: ENSP00000444117.1:p.Ala130Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.853G>T
  hgvsp: ENSP00000308540.4:p.Ala285Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.719G>T
  hgvsp: ENSP00000427867.1:p.Ala241Ser
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.853G>T
  hgvsp: ENSP00000428261.1:p.Ala285Ser
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*350G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4392G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*420G>T
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala285Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-36358404-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358404
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358404
    reference: chr 17
allele count: 6
allele frequency: 8.443568815085843e-4
allele num: 7106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4389-9C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*347-9C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.716-9C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.850-9C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.838-9C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*417-9C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.850-9C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.385-9C>T
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

17-36358429-AAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358429
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358427
    reference: chr 17
allele count: 27
allele frequency: 4.153846153846154e-3
allele num: 6500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.716-36_716-35delAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.385-36_385-35delAT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4389-36_4389-35delAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.838-36_838-35delAT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*347-36_*347-35delAT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*417-36_*417-35delAT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.850-36_850-35delAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.850-36_850-35delAT
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: AAT
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS

17-36358432-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358432
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358432
    reference: chr 17
allele count: 19
allele frequency: 2.953061858874728e-3
allele num: 6434
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.850-37T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.850-37T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.716-37T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4389-37T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*347-37T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.838-37T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.385-37T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*417-37T>C
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4587
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

17-36358437-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358437
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358437
    reference: chr 17
allele count: 44
allele frequency: 6.785934608266502e-3
allele num: 6484
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.838-42T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.850-42T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*417-42T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.850-42T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.716-42T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.385-42T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4389-42T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*347-42T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-36358798-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358798
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358798
    reference: chr 17
allele count: 1
allele frequency: 8.29324929507381e-6
allele num: 120580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.837+44A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.849+44A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.849+44A>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*345A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*416+44A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.384+44A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.715+44A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4388+44A>C
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44858
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57996
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: c.*345A>C
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

17-36358802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358802
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358802
    reference: chr 17
allele count: 4
allele frequency: 3.316804590457553e-5
allele num: 120598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*416+40C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.837+40C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.849+40C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.849+40C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.384+40C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*341C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.715+40C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4388+40C>T
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44861
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

17-36358802-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358802
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358801
    reference: chr 17
allele count: 3
allele frequency: 2.487603442843165e-5
allele num: 120598
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*416+39delA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4388+39delA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.849+39delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.849+39delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.837+39delA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*340delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.715+39delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.384+39delA
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44861
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: GT
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

17-36358810-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358810
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358810
    reference: chr 17
allele count: 8
allele frequency: 6.632509244059759e-5
allele num: 120618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.384+32G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.849+32G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.849+32G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*333G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4388+32G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*416+32G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.715+32G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.837+32G>A
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44862
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

17-36358817-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358817
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358817
    reference: chr 17
allele count: 17
allele frequency: 1.408987683790011e-4
allele num: 120654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*416+25T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.384+25T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.715+25T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.849+25T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4388+25T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.849+25T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.837+25T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*326T>C
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44868
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-36358819-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358819
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358819
    reference: chr 17
allele count: 2
allele frequency: 1.657522666622466e-5
allele num: 120662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.837+23G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.384+23G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.715+23G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*416+23G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4388+23G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*324G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.849+23G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.849+23G>T
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44868
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58010
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

17-36358819-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358819
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358819
    reference: chr 17
allele count: 1
allele frequency: 8.287613333112331e-6
allele num: 120662
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*416+23G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.849+23G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*324G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.837+23G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.384+23G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4388+23G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.715+23G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.849+23G>C
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44868
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58010
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

17-36358824-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358824
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358824
    reference: chr 17
allele count: 3
allele frequency: 2.485871961021528e-5
allele num: 120682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*416+18G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.837+18G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.849+18G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.715+18G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*319G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.384+18G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4388+18G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.849+18G>A
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44868
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-36358832-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358832
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358832
    reference: chr 17
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.849+10C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.849+10C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.715+10C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.837+10C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4388+10C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.384+10C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*311C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*416+10C>T
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44868
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58016
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

17-36358835-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358835
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358835
    reference: chr 17
allele count: 3
allele frequency: 2.484883624616914e-5
allele num: 120730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4388+7G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.849+7G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.715+7G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*308G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*416+7G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.837+7G>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.849+7G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.384+7G>A
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44868
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: c.849+7G>A
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

17-36358836-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358836
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358836
    reference: chr 17
allele count: 4
allele frequency: 3.313178166155885e-5
allele num: 120730
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.837+6T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.715+6T>C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.849+6T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*416+6T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*307T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4388+6T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.849+6T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.384+6T>C
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44870
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58016
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: c.849+6T>C
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

17-36358837-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358837
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358837
    reference: chr 17
allele count: 3
allele frequency: 2.484842460987973e-5
allele num: 120732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*416+5A>G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.849+5A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.849+5A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.837+5A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.715+5A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4388+5A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.384+5A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*306A>G
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44870
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
hgvs: c.849+5A>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

17-36358844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358844
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358844
    reference: chr 17
allele count: 2
allele frequency: 1.656479318855704e-5
allele num: 120738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4386G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.835G>A
  hgvsp: ENSP00000428330.1:p.Glu279Lys
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*414G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.382G>A
  hgvsp: ENSP00000444117.1:p.Glu128Lys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.847G>A
  hgvsp: ENSP00000308540.4:p.Glu283Lys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.713G>A
  hgvsp: ENSP00000427867.1:p.Glu239Lys
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.847G>A
  hgvsp: ENSP00000428261.1:p.Glu283Lys
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*299G>A
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44872
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu283Lys
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

17-36358847-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358847
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358847
    reference: chr 17
allele count: 89884
allele frequency: 7.460491367861886e-1
allele num: 120480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.379A>T
  hgvsp: ENSP00000444117.1:p.Ile127Leu
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.844A>T
  hgvsp: ENSP00000428261.1:p.Ile282Leu
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*411A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.844A>T
  hgvsp: ENSP00000308540.4:p.Ile282Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.832A>T
  hgvsp: ENSP00000428330.1:p.Ile278Leu
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*296A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.710A>T
  hgvsp: ENSP00000427867.1:p.Ile238Leu
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4383A>T
canonical: true
consequence: missense
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 3.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 275
genotype depth: GenotypeDepth
  all individuals: 57929
  bin: 9.75e1
  variant carriers: 57929
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 198
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 250
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 214
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 316
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 201
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 35
hgvs: p.Ile282Leu
num of homozygotes: 29694
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

17-36358850-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358850
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358850
    reference: chr 17
allele count: 2
allele frequency: 1.655875875544369e-5
allele num: 120782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4380G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.841G>A
  hgvsp: ENSP00000308540.4:p.Ala281Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.376G>A
  hgvsp: ENSP00000444117.1:p.Ala126Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.829G>A
  hgvsp: ENSP00000428330.1:p.Ala277Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.707G>A
  hgvsp: ENSP00000427867.1:p.Ala237Thr
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*408G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.841G>A
  hgvsp: ENSP00000428261.1:p.Ala281Thr
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*293G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30265
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala281Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP

17-36358858-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358858
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358858
    reference: chr 17
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*400G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.833G>A
  hgvsp: ENSP00000308540.4:p.Gly278Glu
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*285G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.368G>A
  hgvsp: ENSP00000444117.1:p.Gly123Glu
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4372G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.699G>A
  hgvsp: ENSP00000427867.1:p.Gly234Glu
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.833G>A
  hgvsp: ENSP00000428261.1:p.Gly278Glu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.821G>A
  hgvsp: ENSP00000428330.1:p.Gly274Glu
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30263
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly278Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/17-36358859-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358859
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358859
    reference: chr 17
allele count: 11
allele frequency: 9.107468123861566e-5
allele num: 120780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.832G>T
  hgvsp: ENSP00000308540.4:p.Gly278Ter
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.820G>T
  hgvsp: ENSP00000428330.1:p.Gly274Ter
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.698G>T
  hgvsp: ENSP00000427867.1:p.Gly234Ter
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.832G>T
  hgvsp: ENSP00000428261.1:p.Gly278Ter
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.367G>T
  hgvsp: ENSP00000444117.1:p.Gly123Ter
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*284G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4371G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*399G>T
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5521
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly278Ter
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-36358859-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358859
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358859
    reference: chr 17
allele count: 3
allele frequency: 2.483854942871336e-5
allele num: 120780
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.820G>C
  hgvsp: ENSP00000428330.1:p.Gly274Arg
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.367G>C
  hgvsp: ENSP00000444117.1:p.Gly123Arg
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.832G>C
  hgvsp: ENSP00000308540.4:p.Gly278Arg
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*399G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.698G>C
  hgvsp: ENSP00000427867.1:p.Gly234Arg
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4371G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.832G>C
  hgvsp: ENSP00000428261.1:p.Gly278Arg
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*284G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11995
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly278Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-36358860-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358860
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358860
    reference: chr 17
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.366A>T
  hgvsp: ENSP00000444117.1:p.Gln122His
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*398A>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*283A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.831A>T
  hgvsp: ENSP00000308540.4:p.Gln277His
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.697A>T
  hgvsp: ENSP00000427867.1:p.Gln233His
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.819A>T
  hgvsp: ENSP00000428330.1:p.Gln273His
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.831A>T
  hgvsp: ENSP00000428261.1:p.Gln277His
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4370A>T
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln277His
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

17-36358864-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358864
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358864
    reference: chr 17
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.815A>G
  hgvsp: ENSP00000428330.1:p.Glu272Gly
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*394A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.362A>G
  hgvsp: ENSP00000444117.1:p.Glu121Gly
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.827A>G
  hgvsp: ENSP00000308540.4:p.Glu276Gly
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.827A>G
  hgvsp: ENSP00000428261.1:p.Glu276Gly
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.693A>G
  hgvsp: ENSP00000427867.1:p.Glu232Gly
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*279A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4366A>G
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5522
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu276Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD

17-36358865-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358865
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358865
    reference: chr 17
allele count: 64
allele frequency: 5.299153791378939e-4
allele num: 120774
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.826G>C
  hgvsp: ENSP00000428261.1:p.Glu276Gln
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.814G>C
  hgvsp: ENSP00000428330.1:p.Glu272Gln
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.361G>C
  hgvsp: ENSP00000444117.1:p.Glu121Gln
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4365G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.826G>C
  hgvsp: ENSP00000308540.4:p.Glu276Gln
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*278G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.692G>C
  hgvsp: ENSP00000427867.1:p.Glu232Gln
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*393G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 9.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30244
  bin: 9.75e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 1
hgvs: p.Glu276Gln
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-36358866-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358866
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358866
    reference: chr 17
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.813A>G
  hgvsp: ENST00000518004.1:c.813A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*277A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.691A>G
  hgvsp: ENST00000523089.1:c.691A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*392A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.825A>G
  hgvsp: ENST00000520237.1:c.825A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.360A>G
  hgvsp: ENST00000544906.1:c.360A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.825A>G
  hgvsp: ENST00000312412.4:c.825A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4364A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6188
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12030
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala275Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-36358868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358868
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358868
    reference: chr 17
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*390G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.358G>A
  hgvsp: ENSP00000444117.1:p.Ala120Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.689G>A
  hgvsp: ENSP00000427867.1:p.Ala231Thr
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4362G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.823G>A
  hgvsp: ENSP00000308540.4:p.Ala275Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.811G>A
  hgvsp: ENSP00000428330.1:p.Ala271Thr
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*275G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.823G>A
  hgvsp: ENSP00000428261.1:p.Ala275Thr
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala275Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

17-36358872-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358872
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358872
    reference: chr 17
allele count: 4
allele frequency: 3.311751751088738e-5
allele num: 120782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.354C>T
  hgvsp: ENST00000544906.1:c.354C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.685C>T
  hgvsp: ENST00000523089.1:c.685C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.819C>T
  hgvsp: ENST00000312412.4:c.819C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*386C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.807C>T
  hgvsp: ENST00000518004.1:c.807C>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.819C>T
  hgvsp: ENST00000520237.1:c.819C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*271C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4358C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6186
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly273Gly
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-36358877-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358877
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358877
    reference: chr 17
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.349G>T
  hgvsp: ENSP00000444117.1:p.Val117Phe
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*266G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4353G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.802G>T
  hgvsp: ENSP00000428330.1:p.Val268Phe
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.814G>T
  hgvsp: ENSP00000428261.1:p.Val272Phe
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.814G>T
  hgvsp: ENSP00000308540.4:p.Val272Phe
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*381G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.680G>T
  hgvsp: ENSP00000427867.1:p.Val228Phe
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3022
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val272Phe
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

17-36358879-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358879
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358879
    reference: chr 17
allele count: 3
allele frequency: 2.483813813316554e-5
allele num: 120782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.347C>T
  hgvsp: ENSP00000444117.1:p.Pro116Leu
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*264C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4351C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.800C>T
  hgvsp: ENSP00000428330.1:p.Pro267Leu
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*379C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.678C>T
  hgvsp: ENSP00000427867.1:p.Pro227Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.812C>T
  hgvsp: ENSP00000308540.4:p.Pro271Leu
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.812C>T
  hgvsp: ENSP00000428261.1:p.Pro271Leu
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro271Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

17-36358880-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358880
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358880
    reference: chr 17
allele count: 2
allele frequency: 1.655875875544369e-5
allele num: 120782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*378C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.677C>T
  hgvsp: ENSP00000427867.1:p.Pro227Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.799C>T
  hgvsp: ENSP00000428330.1:p.Pro267Ser
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.811C>T
  hgvsp: ENSP00000428261.1:p.Pro271Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.346C>T
  hgvsp: ENSP00000444117.1:p.Pro116Ser
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4350C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.811C>T
  hgvsp: ENSP00000308540.4:p.Pro271Ser
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*263C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12036
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3022
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro271Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

17-36358881-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358881
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358881
    reference: chr 17
allele count: 2
allele frequency: 1.655875875544369e-5
allele num: 120782
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.345T>C
  hgvsp: ENST00000544906.1:c.345T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.676T>C
  hgvsp: ENST00000523089.1:c.676T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*377T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*262T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4349T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.810T>C
  hgvsp: ENST00000520237.1:c.810T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.798T>C
  hgvsp: ENST00000518004.1:c.798T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.810T>C
  hgvsp: ENST00000312412.4:c.810T>C(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3022
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30202
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr270Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

17-36358882-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358882
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358882
    reference: chr 17
allele count: 2
allele frequency: 1.655903295247558e-5
allele num: 120780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.675C>T
  hgvsp: ENSP00000427867.1:p.Thr226Ile
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.797C>T
  hgvsp: ENSP00000428330.1:p.Thr266Ile
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.809C>T
  hgvsp: ENSP00000428261.1:p.Thr270Ile
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.809C>T
  hgvsp: ENSP00000308540.4:p.Thr270Ile
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.344C>T
  hgvsp: ENSP00000444117.1:p.Thr115Ile
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*261C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*376C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4348C>T
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12036
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30200
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr270Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-36358886-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358886
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358886
    reference: chr 17
allele count: 9
allele frequency: 7.451564828614009e-5
allele num: 120780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.805T>G
  hgvsp: ENSP00000308540.4:p.Tyr269Asp
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4344T>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*257T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.340T>G
  hgvsp: ENSP00000444117.1:p.Tyr114Asp
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.793T>G
  hgvsp: ENSP00000428330.1:p.Tyr265Asp
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.671T>G
  hgvsp: ENSP00000427867.1:p.Tyr225Asp
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*372T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.805T>G
  hgvsp: ENSP00000428261.1:p.Tyr269Asp
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr269Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

17-36358891-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358891
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358891
    reference: chr 17
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.788G>A
  hgvsp: ENSP00000428330.1:p.Cys263Tyr
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*367G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*252G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.800G>A
  hgvsp: ENSP00000308540.4:p.Cys267Tyr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.335G>A
  hgvsp: ENSP00000444117.1:p.Cys112Tyr
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.800G>A
  hgvsp: ENSP00000428261.1:p.Cys267Tyr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.666G>A
  hgvsp: ENSP00000427867.1:p.Cys223Tyr
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4339G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30198
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys267Tyr
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

17-36358892-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358892
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358892
    reference: chr 17
allele count: 4
allele frequency: 3.312025966283576e-5
allele num: 120772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.334T>C
  hgvsp: ENSP00000444117.1:p.Cys112Arg
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.799T>C
  hgvsp: ENSP00000308540.4:p.Cys267Arg
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4338T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.665T>C
  hgvsp: ENSP00000427867.1:p.Cys223Arg
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.787T>C
  hgvsp: ENSP00000428330.1:p.Cys263Arg
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.799T>C
  hgvsp: ENSP00000428261.1:p.Cys267Arg
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*366T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*251T>C
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12038
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Cys267Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

17-36358898-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358898
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358898
    reference: chr 17
allele count: 2
allele frequency: 1.655875875544369e-5
allele num: 120782
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*360T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*245T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.793T>C
  hgvsp: ENSP00000428261.1:p.Cys265Arg
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.793T>C
  hgvsp: ENSP00000308540.4:p.Cys265Arg
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.659T>C
  hgvsp: ENSP00000427867.1:p.Cys221Arg
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.781T>C
  hgvsp: ENSP00000428330.1:p.Cys261Arg
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.328T>C
  hgvsp: ENSP00000444117.1:p.Cys110Arg
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4332T>C
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3022
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys265Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

17-36358899-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358899
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358899
    reference: chr 17
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*359G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.780G>A
  hgvsp: ENST00000518004.1:c.780G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.792G>A
  hgvsp: ENST00000312412.4:c.792G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*244G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.792G>A
  hgvsp: ENST00000520237.1:c.792G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.327G>A
  hgvsp: ENST00000544906.1:c.327G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.658G>A
  hgvsp: ENST00000523089.1:c.658G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4331G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30195
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val264Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

17-36358901-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358901
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358901
    reference: chr 17
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.790G>A
  hgvsp: ENSP00000428261.1:p.Val264Met
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4329G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.325G>A
  hgvsp: ENSP00000444117.1:p.Val109Met
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.790G>A
  hgvsp: ENSP00000308540.4:p.Val264Met
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.656G>A
  hgvsp: ENSP00000427867.1:p.Val220Met
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.778G>A
  hgvsp: ENSP00000428330.1:p.Val260Met
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*242G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*357G>A
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30196
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val264Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

17-36358902-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358902
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358902
    reference: chr 17
allele count: 249
allele frequency: 2.064128921015982e-3
allele num: 120632
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.324T>C
  hgvsp: ENST00000544906.1:c.324T>C(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.789T>C
  hgvsp: ENST00000520237.1:c.789T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4328T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*356T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.777T>C
  hgvsp: ENST00000518004.1:c.777T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.655T>C
  hgvsp: ENST00000523089.1:c.655T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.789T>C
  hgvsp: ENST00000312412.4:c.789T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*241T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 9.75e1
  variant carriers: 251
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30061
  bin: 9.75e1
  variant carriers: 223
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Gly263Gly
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

17-36358903-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358903
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358903
    reference: chr 17
allele count: 2
allele frequency: 1.655875875544369e-5
allele num: 120782
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.654G>C
  hgvsp: ENSP00000427867.1:p.Gly219Ala
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.323G>C
  hgvsp: ENSP00000444117.1:p.Gly108Ala
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.788G>C
  hgvsp: ENSP00000308540.4:p.Gly263Ala
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.788G>C
  hgvsp: ENSP00000428261.1:p.Gly263Ala
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.776G>C
  hgvsp: ENSP00000428330.1:p.Gly259Ala
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4327G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*240G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*355G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly263Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

17-36358904-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358904
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358904
    reference: chr 17
allele count: 8
allele frequency: 6.623503502177477e-5
allele num: 120782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4326G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.653G>A
  hgvsp: ENSP00000427867.1:p.Gly219Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.787G>A
  hgvsp: ENSP00000308540.4:p.Gly263Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.775G>A
  hgvsp: ENSP00000428330.1:p.Gly259Ser
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*239G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.322G>A
  hgvsp: ENSP00000444117.1:p.Gly108Ser
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*354G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.787G>A
  hgvsp: ENSP00000428261.1:p.Gly263Ser
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly263Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-36358912-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358912
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358912
    reference: chr 17
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*231C>G
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.645C>G
  hgvsp: ENSP00000427867.1:p.Ser216Ter
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.779C>G
  hgvsp: ENSP00000428261.1:p.Ser260Ter
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4318C>G
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.779C>G
  hgvsp: ENSP00000308540.4:p.Ser260Ter
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.767C>G
  hgvsp: ENSP00000428330.1:p.Ser256Ter
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*346C>G
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.314C>G
  hgvsp: ENSP00000444117.1:p.Ser105Ter
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser260Ter
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

17-36358915-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358915
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358915
    reference: chr 17
allele count: 2
allele frequency: 1.655903295247558e-5
allele num: 120780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4315G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*343G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.642G>A
  hgvsp: ENSP00000427867.1:p.Arg215Lys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.311G>A
  hgvsp: ENSP00000444117.1:p.Arg104Lys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.764G>A
  hgvsp: ENSP00000428330.1:p.Arg255Lys
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*228G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.776G>A
  hgvsp: ENSP00000428261.1:p.Arg259Lys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.776G>A
  hgvsp: ENSP00000308540.4:p.Arg259Lys
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg259Lys
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-36358917-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36358917
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 36358917
    reference: chr 17
allele count: 6
allele frequency: 4.967627626633108e-5
allele num: 120782
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428199
  ensembl transcript: ENST00000523052
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523052.1:c.*341A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000308540
  ensembl transcript: ENST00000312412
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000312412.4:c.774A>G
  hgvsp: ENST00000312412.4:c.774A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428330
  ensembl transcript: ENST00000518004
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000518004.1:c.762A>G
  hgvsp: ENST00000518004.1:c.762A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174093
  ensembl transcript: ENST00000400815
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000400815.3:n.4313A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428560
  ensembl transcript: ENST00000520499
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520499.1:c.*226A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000444117
  ensembl transcript: ENST00000544906
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000544906.1:c.309A>G
  hgvsp: ENST00000544906.1:c.309A>G(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000428261
  ensembl transcript: ENST00000520237
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000520237.1:c.774A>G
  hgvsp: ENST00000520237.1:c.774A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174093
  ensembl protein: ENSP00000427867
  ensembl transcript: ENST00000523089
  gene symbol: RP11-1407O15.2
  hgvsc: ENST00000523089.1:c.640A>G
  hgvsp: ENST00000523089.1:c.640A>G(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr258Thr
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 2693
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 7.20634158059092e-4
allele num: 16652
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 2.040816326530612e-3
allele num: 2940
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1810
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2250
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.482e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.519e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.86e-1

FS
type: SiteQuality
SIO_000300: 5.8701e1

DP
type: SiteQuality
SIO_000300: 5.66928e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.59e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.727e1

QD
type: SiteQuality
SIO_000300: 4.4e-1

GenotypeQuality
all individuals: 1452
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3792
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 53
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 422
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 2.75e1
variant carriers: 1

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.275510204081633e-3
allele num: 784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3084
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 7.993605115907274e-4
allele num: 5004
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.72761e5

VQSLOD
type: SiteQuality
SIO_000300: -1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.037e1

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

MQ
type: SiteQuality
SIO_000300: 4.665e1

FS
type: SiteQuality
SIO_000300: 8.974e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.49e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

GenotypeQuality
all individuals: 38
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2000
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 54
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 454
bin: 9.75e1
variant carriers: 156

GenotypeQuality
all individuals: 580
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 132
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 6
allele frequency: 1.2531328320802e-3
allele num: 4788
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2958
num of homozygotes: 0

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

African
type: Population
allele count: 124
allele frequency: 1.445221445221445e-1
allele num: 858
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.408e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

DP
type: SiteQuality
SIO_000300: 1.75993e5

FS
type: SiteQuality
SIO_000300: 3.6718e1

QD
type: SiteQuality
SIO_000300: 1.575e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.75e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.764e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.107e0

GenotypeQuality
all individuals: 3515
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 155
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 167
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 564
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 642
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 8.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 3.721244925575102e-3
allele num: 2956
num of homozygotes: 2

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

East Asian
type: Population
allele count: 1
allele frequency: 4.950495049504951e-3
allele num: 202
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.380952380952381e-3
allele num: 840
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 2.306079664570231e-3
allele num: 4770
num of homozygotes: 2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 5.99e0

VQSLOD
type: SiteQuality
SIO_000300: -1.345e0

MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.73e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

QD
type: SiteQuality
SIO_000300: 2.248e1

MQ
type: SiteQuality
SIO_000300: 4.555e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 1.78011e5

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3692
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1917
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 474
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 47
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 429
bin: 9.75e1
variant carriers: 102

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.008032128514056e-3
allele num: 498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.578282828282828e-3
allele num: 3168
num of homozygotes: 0

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

African
type: Population
allele count: 32
allele frequency: 3.950617283950617e-2
allele num: 810
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 1.784298176050753e-3
allele num: 5044
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 7.936507936507936e-3
allele num: 126
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.4919e1

QD
type: SiteQuality
SIO_000300: 3.126e1

MQ
type: SiteQuality
SIO_000300: 4.202e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.63e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

DP
type: SiteQuality
SIO_000300: 1.74294e5

VQSLOD
type: SiteQuality
SIO_000300: -4.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 629
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 645
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 5.957108816521049e-4
allele num: 5036
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.430868167202572e-4
allele num: 3110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.17e-2

MQ
type: SiteQuality
SIO_000300: 4.308e1

MQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

FS
type: SiteQuality
SIO_000300: 4.764e0

VQSLOD
type: SiteQuality
SIO_000300: -2.028e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

DP
type: SiteQuality
SIO_000300: 1.75089e5

QD
type: SiteQuality
SIO_000300: 2.997e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

GenotypeQuality
all individuals: 1923
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 149
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 713
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3786
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 189
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 77
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 447
bin: 9.75e1
variant carriers: 136

GenotypeQuality
all individuals: 69
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 637
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3148
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

African
type: Population
allele count: 104
allele frequency: 1.147902869757174e-1
allele num: 906
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 3.952569169960474e-4
allele num: 5060
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.829e1

FS
type: SiteQuality
SIO_000300: 3.813e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.98e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 4.297e1

DP
type: SiteQuality
SIO_000300: 1.74182e5

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

GenotypeQuality
all individuals: 149
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3786
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 628
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 189
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

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

African
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: 470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.176620076238882e-4
allele num: 3148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5060
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.829e1

DP
type: SiteQuality
SIO_000300: 1.74182e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.98e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 3.813e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

MQ
type: SiteQuality
SIO_000300: 4.297e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4822
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.506265664160401e-3
allele num: 798
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.87e-2

FS
type: SiteQuality
SIO_000300: 1.587e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

DP
type: SiteQuality
SIO_000300: 1.72368e5

QD
type: SiteQuality
SIO_000300: 3.26e0

MQRankSum
type: SiteQuality
SIO_000300: -2.089e0

MQ
type: SiteQuality
SIO_000300: 4.401e1

VQSLOD
type: SiteQuality
SIO_000300: -2.286e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.366e0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.80046403712297e-3
allele num: 862
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2996
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.017756255044391e-4
allele num: 4956
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.9e1

MQRankSum
type: SiteQuality
SIO_000300: -4.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.480000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.72539e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQ
type: SiteQuality
SIO_000300: 4.287e1

VQSLOD
type: SiteQuality
SIO_000300: -6.032e0

FS
type: SiteQuality
SIO_000300: 3.5471e1

GenotypeQuality
all individuals: 59
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1901
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 2.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.160092807424594e-3
allele num: 862
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 1.210653753026634e-3
allele num: 4956
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.617977528089887e-3
allele num: 178
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.337783711615487e-4
allele num: 2996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 9.433962264150943e-3
allele num: 106
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.480000000000001e-2

QD
type: SiteQuality
SIO_000300: 2.9e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.14e-1

FS
type: SiteQuality
SIO_000300: 3.5471e1

DP
type: SiteQuality
SIO_000300: 1.72539e5

VQSLOD
type: SiteQuality
SIO_000300: -6.032e0

MQ
type: SiteQuality
SIO_000300: 4.287e1

GenotypeQuality
all individuals: 2118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 428
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 71
bin: 7.25e1
variant carriers: 1

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

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

African
type: Population
allele count: 36
allele frequency: 4.639175257731959e-2
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.221e0

FS
type: SiteQuality
SIO_000300: 5.2653e1

VQSLOD
type: SiteQuality
SIO_000300: -1.491e1

DP
type: SiteQuality
SIO_000300: 1.72613e5

MQ
type: SiteQuality
SIO_000300: 3.976e1

MQRankSum
type: SiteQuality
SIO_000300: -6.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 2.008e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.77e-2

GenotypeQuality
all individuals: 548
bin: 1.25e1
variant carriers: 6

GenotypeQuality
all individuals: 70
bin: 7.75e1
variant carriers: 23

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 15

GenotypeQuality
all individuals: 61
bin: 7.25e1
variant carriers: 21

GenotypeQuality
all individuals: 370
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 4190
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 529
bin: 6.25e1
variant carriers: 14

GenotypeQuality
all individuals: 2983
bin: 2.25e1
variant carriers: 8

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 13

GenotypeQuality
all individuals: 137
bin: 6.75e1
variant carriers: 24

European (Non-Finnish)
type: Population
allele count: 319
allele frequency: 1.000627352572146e-1
allele num: 3188
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 7.000000000000001e-2
allele num: 100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

South Asian
type: Population
allele count: 162
allele frequency: 7.692307692307693e-2
allele num: 2106
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 14
allele frequency: 3.19634703196347e-2
allele num: 438
num of homozygotes: 0

Latino
type: Population
allele count: 21
allele frequency: 8.898305084745763e-2
allele num: 236
num of homozygotes: 0

African
type: Population
allele count: 22
allele frequency: 1.873935264054515e-2
allele num: 1174
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.028e1

DP
type: SiteQuality
SIO_000300: 1.41639e5

MQRankSum
type: SiteQuality
SIO_000300: 3.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.67e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

FS
type: SiteQuality
SIO_000300: 3.301e0

MQ
type: SiteQuality
SIO_000300: 3.954e1

VQSLOD
type: SiteQuality
SIO_000300: -1.224e-1

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

GenotypeQuality
all individuals: 348
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11046
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 67
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2733
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 33
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2974
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.937007874015748e-3
allele num: 254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1250
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 8.431703204047217e-3
allele num: 1186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.3947e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

QD
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.396e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

GenotypeQuality
all individuals: 460
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 995
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13866
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 70
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 85
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 32
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 132
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1000
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

African
type: Population
allele count: 23
allele frequency: 1.891447368421053e-2
allele num: 1216
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.731343283582089e-3
allele num: 268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.388888888888889e-2
allele num: 72
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.01e-2

MQ
type: SiteQuality
SIO_000300: 3.347e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e-1

DP
type: SiteQuality
SIO_000300: 1.48559e5

FS
type: SiteQuality
SIO_000300: 2.934e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

QD
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
all individuals: 531
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3929
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17993
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1544
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1469
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.692514808831449e-4
allele num: 3714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 1.166180758017493e-2
allele num: 1372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.271e1

FS
type: SiteQuality
SIO_000300: 8.371e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

DP
type: SiteQuality
SIO_000300: 1.74006e5

QD
type: SiteQuality
SIO_000300: 1.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

MQRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.770000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.973e0

GenotypeQuality
all individuals: 3935
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 18051
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1821
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 456
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 40
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 6

GenotypeQuality
all individuals: 98
bin: 8.25e1
variant carriers: 7

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 110
bin: 7.75e1
variant carriers: 9

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 77
allele frequency: 2.072120559741658e-2
allele num: 3716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 1.412429378531073e-2
allele num: 354
num of homozygotes: 0

South Asian
type: Population
allele count: 20
allele frequency: 1.972386587771203e-2
allele num: 1014
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.26797385620915e-3
allele num: 306
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.222222222222222e-2
allele num: 90
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 7.102272727272727e-4
allele num: 1408
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.931e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.231e0

DP
type: SiteQuality
SIO_000300: 1.77834e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

FS
type: SiteQuality
SIO_000300: 5.735e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.99e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e-1

MQ
type: SiteQuality
SIO_000300: 3.252e1

QD
type: SiteQuality
SIO_000300: 3.07e0

GenotypeQuality
all individuals: 5360
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2003
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.415458937198068e-3
allele num: 414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

DP
type: SiteQuality
SIO_000300: 1.99315e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.69e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: -2.942e0

QD
type: SiteQuality
SIO_000300: 3.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.228e0

MQ
type: SiteQuality
SIO_000300: 3.3e1

GenotypeQuality
all individuals: 5455
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20990
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2055
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 3.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.630000000000001e-2

QD
type: SiteQuality
SIO_000300: 3.35e0

MQ
type: SiteQuality
SIO_000300: 3.383e1

DP
type: SiteQuality
SIO_000300: 2.02278e5

VQSLOD
type: SiteQuality
SIO_000300: -3.164e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

GenotypeQuality
all individuals: 113
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2150
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.331378299120235e-4
allele num: 1364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4498
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 2.04926e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.61e-2

MQ
type: SiteQuality
SIO_000300: 3.256e1

VQSLOD
type: SiteQuality
SIO_000300: -3.38e0

FS
type: SiteQuality
SIO_000300: 6.166e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.776e0

QD
type: SiteQuality
SIO_000300: 3.87e0

GenotypeQuality
all individuals: 20738
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5440
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 6.345177664974619e-4
allele num: 1576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.836e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

DP
type: SiteQuality
SIO_000300: 2.0496e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.242e1

QD
type: SiteQuality
SIO_000300: 2.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.57e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

GenotypeQuality
all individuals: 496
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 952
bin: 2.5e0
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1376
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 6.321112515802782e-4
allele num: 1582
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.05329e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.59e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.375e0

MQ
type: SiteQuality
SIO_000300: 3.114e1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

QD
type: SiteQuality
SIO_000300: 7.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.0e-3
allele num: 500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4668
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1404
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 2.359e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.46e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 3.235e1

DP
type: SiteQuality
SIO_000300: 2.02664e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.798e0

QD
type: SiteQuality
SIO_000300: 6.3e0

GenotypeQuality
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GenotypeQuality
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variant carriers: 75

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 510
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South Asian
type: Population
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allele frequency: 7.923930269413629e-4
allele num: 1262
num of homozygotes: 0

African
type: Population
allele count: 96
allele frequency: 5.904059040590406e-2
allele num: 1626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.131287297527707e-4
allele num: 4692
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

DP
type: SiteQuality
SIO_000300: 1.93628e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.793e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.580000000000001e-2

FS
type: SiteQuality
SIO_000300: 5.422e0

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.863e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

MQ
type: SiteQuality
SIO_000300: 3.24e1

QD
type: SiteQuality
SIO_000300: 3.38e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 1
allele frequency: 2.762430939226519e-3
allele num: 362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4556
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African
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allele count: 11
allele frequency: 6.832298136645962e-3
allele num: 1610
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 502
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.25e1

DP
type: SiteQuality
SIO_000300: 1.68389e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.517e0

VQSLOD
type: SiteQuality
SIO_000300: -2.955e0

QD
type: SiteQuality
SIO_000300: 1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.190000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 120
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.922011998154131e-4
allele num: 4334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.99e-2

DP
type: SiteQuality
SIO_000300: 1.51677e5

MQ
type: SiteQuality
SIO_000300: 3.231e1

MQRankSum
type: SiteQuality
SIO_000300: 2.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

VQSLOD
type: SiteQuality
SIO_000300: -3.422e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 3.947368421052632e-3
allele num: 1520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4150
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.547e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

QD
type: SiteQuality
SIO_000300: 7.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.75e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.987e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.203e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 1
allele frequency: 2.906976744186046e-3
allele num: 344
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 2.100840336134454e-3
allele num: 476
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.503755633450175e-4
allele num: 3994
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.666666666666667e-2
allele num: 60
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African
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allele count: 23
allele frequency: 1.910299003322259e-2
allele num: 1204
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.88e0

MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.59e-2

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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DP
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MQ
type: SiteQuality
SIO_000300: 3.479e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 1
allele frequency: 2.906976744186046e-3
allele num: 344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3990
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African
type: Population
allele count: 18
allele frequency: 1.56794425087108e-2
allele num: 1148
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
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Other
type: Population
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allele num: 58
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 3.439e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.73e-2

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.66e0

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

East Asian
type: Population
allele count: 32
allele frequency: 6.956521739130435e-2
allele num: 460
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Latino
type: Population
allele count: 7
allele frequency: 2.0e-2
allele num: 350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.473841554559044e-4
allele num: 4014
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.666666666666667e-2
allele num: 60
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European (Finnish)
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allele count: 0
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South Asian
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allele count: 1
allele frequency: 2.551020408163265e-3
allele num: 392
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FS
type: SiteQuality
SIO_000300: 1.455e0

ClippingRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 184
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GenotypeQuality
all individuals: 42
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South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

Latino
type: Population
allele count: 0
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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: 9796
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.57e0

MQRankSum
type: SiteQuality
SIO_000300: -6.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
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SIO_000300: 8.625453e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -6.8e0

QD
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 5.338e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.00672753483902e-5
allele num: 66592
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQ
type: SiteQuality
SIO_000300: 5.631e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.627044e6

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

QD
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SIO_000300: 3.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.477e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

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

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

South Asian
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allele count: 3
allele frequency: 1.817741153659719e-4
allele num: 16504
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.631e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.477e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

DP
type: SiteQuality
SIO_000300: 8.627044e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.05095637029697e-4
allele num: 66606
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

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

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.465e0

FS
type: SiteQuality
SIO_000300: 2.277e0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.673e1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.544e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

DP
type: SiteQuality
SIO_000300: 8.629007e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 15

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 308
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 7.25e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

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

East Asian
type: Population
allele count: 17
allele frequency: 1.971700301554164e-3
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 4.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQ
type: SiteQuality
SIO_000300: 5.707e1

DP
type: SiteQuality
SIO_000300: 8.631289e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.76e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.14e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.903e0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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: 9802
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001110410852015e-5
allele num: 66642
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.7e0

FS
type: SiteQuality
SIO_000300: 1.562e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.42e-1

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.612e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 8.631783e6

MQRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 898
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: 16508
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

Latino
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allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66692
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Other
type: Population
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.998320940273447e-5
allele num: 66704
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.42306760358614e-4
allele num: 16508
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: 9806
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.66e0

DP
type: SiteQuality
SIO_000300: 8.634304e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.492e0

MQ
type: SiteQuality
SIO_000300: 5.718e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 1.168e0

VQSLOD
type: SiteQuality
SIO_000300: -1.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

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

GenotypeQuality
all individuals: 2
bin: 5.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 9.25e1
variant carriers: 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: 2
allele frequency: 2.998231043684226e-5
allele num: 66706
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 2.73e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.875e0

MQ
type: SiteQuality
SIO_000300: 5.715e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 8.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-3

DP
type: SiteQuality
SIO_000300: 8.634782e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 198
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 2.039983680130559e-4
allele num: 9804
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: 66712
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 8.0e-1

DP
type: SiteQuality
SIO_000300: 8.635359e6

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.014e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.639e0

MQ
type: SiteQuality
SIO_000300: 5.769e1

GenotypeQuality
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variant carriers: 59528

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 36

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 53

GenotypeQuality
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variant carriers: 46

GenotypeQuality
all individuals: 60
bin: 7.75e1
variant carriers: 54

European (Non-Finnish)
type: Population
allele count: 47983
allele frequency: 7.199681901389431e-1
allele num: 66646
num of homozygotes: 14692

African
type: Population
allele count: 8339
allele frequency: 8.584517191682108e-1
allele num: 9714
num of homozygotes: 3483

European (Finnish)
type: Population
allele count: 4931
allele frequency: 7.471212121212121e-1
allele num: 6600
num of homozygotes: 1631

Other
type: Population
allele count: 707
allele frequency: 7.890625e-1
allele num: 896
num of homozygotes: 260

South Asian
type: Population
allele count: 11876
allele frequency: 7.198448296763243e-1
allele num: 16498
num of homozygotes: 3639

East Asian
type: Population
allele count: 6924
allele frequency: 8.039944263817929e-1
allele num: 8612
num of homozygotes: 2621

Latino
type: Population
allele count: 9124
allele frequency: 7.924266110821608e-1
allele num: 11514
num of homozygotes: 3368

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.297e-1

MQ
type: SiteQuality
SIO_000300: 5.761e1

DP
type: SiteQuality
SIO_000300: 1.6875954e7

QD
type: SiteQuality
SIO_000300: 2.814e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.055e1

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

GenotypeQuality
all individuals: 11982
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3018
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2114
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GenotypeQuality
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5519
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GenotypeQuality
all individuals: 2619
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.922e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

QD
type: SiteQuality
SIO_000300: 3.84e0

VQSLOD
type: SiteQuality
SIO_000300: -1.415e0

MQ
type: SiteQuality
SIO_000300: 5.741e1

MQRankSum
type: SiteQuality
SIO_000300: 7.03e-1

FS
type: SiteQuality
SIO_000300: 7.12e-1

DP
type: SiteQuality
SIO_000300: 3.545451e6

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 3338
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variant carriers: 0

GenotypeQuality
all individuals: 79
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GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 2618
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 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: 6614
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: 9818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.326e0

VQSLOD
type: SiteQuality
SIO_000300: -3.078e0

FS
type: SiteQuality
SIO_000300: 6.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.14e-1

DP
type: SiteQuality
SIO_000300: 3.545008e6

MQ
type: SiteQuality
SIO_000300: 5.656e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.898e0

QD
type: SiteQuality
SIO_000300: 2.32e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3341
bin: 7.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
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: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.043599257884972e-3
allele num: 8624
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: 898
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: -2.485e0

QD
type: SiteQuality
SIO_000300: 2.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.828e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 1.787e0

MQ
type: SiteQuality
SIO_000300: 5.811e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

DP
type: SiteQuality
SIO_000300: 3.545068e6

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 8.25e1
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: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495190146543199e-5
allele num: 66738
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.787e0

MQ
type: SiteQuality
SIO_000300: 5.811e1

DP
type: SiteQuality
SIO_000300: 3.545068e6

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.828e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5522
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GenotypeQuality
all individuals: 1509
bin: 8.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

Other
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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African
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allele frequency: 1.018744906275469e-4
allele num: 9816
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Latino
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Other
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East Asian
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allele frequency: 0.0e0
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MQ
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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allele frequency: 8.990919171636647e-4
allele num: 66734
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Latino
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allele frequency: 3.456022118541559e-4
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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MQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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FS
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DP
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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allele num: 66738
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East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66738
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Latino
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African
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South Asian
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Other
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

Other
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ClippingRankSum
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DP
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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FS
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MQ
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VQSLOD
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

Latino
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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VQSLOD
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FS
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Other
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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VQSLOD
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DP
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MQ
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66738
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European (Finnish)
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Other
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African
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Latino
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East Asian
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South Asian
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QD
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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South Asian
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East Asian
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FS
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DP
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.381e0

MQ
type: SiteQuality
SIO_000300: 5.652e1

VQSLOD
type: SiteQuality
SIO_000300: -2.853e0

DP
type: SiteQuality
SIO_000300: 3.523232e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.78e0

QD
type: SiteQuality
SIO_000300: 2.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 9

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.912044237083118e-4
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 898
num of homozygotes: 0

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

QD
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 3.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.48e-1

DP
type: SiteQuality
SIO_000300: 3.522746e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.628e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 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: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
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: 9818
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: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.746e0

FS
type: SiteQuality
SIO_000300: 2.389e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.573e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.393e0

QD
type: SiteQuality
SIO_000300: 2.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.651e1

DP
type: SiteQuality
SIO_000300: 3.519795e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
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: 4
allele frequency: 5.994485073732166e-5
allele num: 66728
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

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: 898
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.854e0

QD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.809e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.739e0

MQRankSum
type: SiteQuality
SIO_000300: -7.191e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

MQ
type: SiteQuality
SIO_000300: 5.679e1

DP
type: SiteQuality
SIO_000300: 3.519844e6

GenotypeQuality
all individuals: 12038
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1512
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.517585e6

FS
type: SiteQuality
SIO_000300: 4.743e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

VQSLOD
type: SiteQuality
SIO_000300: -3.269e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 2.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e-1

QD
type: SiteQuality
SIO_000300: 2.64e0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12036
bin: 6.25e1
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GenotypeQuality
all individuals: 5535
bin: 6.75e1
variant carriers: 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: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
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: 9816
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.222e0

DP
type: SiteQuality
SIO_000300: 3.517111e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

MQ
type: SiteQuality
SIO_000300: 5.612e1

FS
type: SiteQuality
SIO_000300: 7.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.371e0

QD
type: SiteQuality
SIO_000300: 2.75e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

GenotypeQuality
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variant carriers: 0

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

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: 1.018537380321858e-4
allele num: 9818
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

DP
type: SiteQuality
SIO_000300: 3.516513e6

MQ
type: SiteQuality
SIO_000300: 5.698e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.057e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

VQSLOD
type: SiteQuality
SIO_000300: -5.434e0

QD
type: SiteQuality
SIO_000300: 2.57e0

GenotypeQuality
all individuals: 5541
bin: 6.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4
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variant carriers: 2

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 2120
bin: 7.25e1
variant carriers: 2

African
type: Population
allele count: 213
allele frequency: 2.201777961546413e-2
allele num: 9674
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.34075723830735e-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

Latino
type: Population
allele count: 19
allele frequency: 1.642178046672429e-3
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.097755401720159e-4
allele num: 66738
num of homozygotes: 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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

QD
type: SiteQuality
SIO_000300: 1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

MQ
type: SiteQuality
SIO_000300: 5.636e1

VQSLOD
type: SiteQuality
SIO_000300: -3.979e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 3.524938e6

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3352
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variant carriers: 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: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQ
type: SiteQuality
SIO_000300: 5.572e1

QD
type: SiteQuality
SIO_000300: 4.6e0

VQSLOD
type: SiteQuality
SIO_000300: -1.241e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

FS
type: SiteQuality
SIO_000300: 1.332e0

DP
type: SiteQuality
SIO_000300: 3.434799e6

MQRankSum
type: SiteQuality
SIO_000300: 9.87e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2120
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GenotypeQuality
all individuals: 0
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variant carriers: 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: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.11500115928588e-4
allele num: 8626
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: 9818
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.158e0

MQ
type: SiteQuality
SIO_000300: 5.669e1

VQSLOD
type: SiteQuality
SIO_000300: -1.585e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 3.434531e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.063e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

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

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

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

GenotypeQuality
all individuals: 3354
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2635
bin: 9.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 30127
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3036
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2119
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
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: 898
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: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 5.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.85e-1

MQ
type: SiteQuality
SIO_000300: 5.702e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.639e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.75e-1

DP
type: SiteQuality
SIO_000300: 3.432276e6

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

GenotypeQuality
all individuals: 3354
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1515
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 30125
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2119
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5545
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.52e0

VQSLOD
type: SiteQuality
SIO_000300: -1.967e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.803e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.24e0

DP
type: SiteQuality
SIO_000300: 3.431999e6

MQ
type: SiteQuality
SIO_000300: 5.682e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.1e-1